RGD:9682742 Rat Genome Database

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Variant: RGD:9682742 -  Homo sapiens

RGD ID: 9682742
RS ID: rs2916747
ClinVar ID: CV168678
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANGPT2  MCPH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 6,371,291
GRCh38 8 6,513,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016619.2:g.112179A>G
NM_024596.3:c.2214+13841A>G
NC_000008.11:g.6513770A>G
NC_000008.10:g.6371291A>G
More... 		intron variant|synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ANGPT2
Accession:NM_001386335
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKVLNQTTRLELQLLEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEE
KDQLQVLVSKQNSIIEELEKKIVTATVNNSVLQKQQHDLMETVNNLLTMMSTSNSKDPTVAKEEQISFRDCAEVFKSGHT
TNGIYTLTFPNSTEEIKAYCDMEAGGGGWTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKI
HLKDWEGNEAYSLYEHFYLSSEELNYRIHLKGLTGTAGKISSISQPGNDFSTKDGDNDKCICKCSQMLTGGWWFDACGPS
NLNGMYYPQRQNTNKFNGIKWYYWKGSGYSLKATTMMIRPADF*

Gene Symbol:ANGPT2
Accession:NM_001386337
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMIEIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGGG
WTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYRL
VV*

Gene Symbol:ANGPT2
Accession:NM_001386336
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMIEIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSAKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGG
GWTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYR
LVV*

Gene Symbol:ANGPT2
Accession:NM_001118888
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKVLNQTTRLELQLLEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEE
KDQLQVLVSKQNSIIEELEKKIVTATVNNSVLQKQQHDLMETVNNLLTMMSTSNSAKDPTVAKEEQISFRDCAEVFKSGH
TTNGIYTLTFPNSTEEIKAYCDMEAGGGGWTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLK
IHLKDWEGNEAYSLYEHFYLSSEELNYRIHLKGLTGTAGKISSISQPGNDFSTKDGDNDKCICKCSQMLTGGWWFDACGP
SNLNGMYYPQRQNTNKFNGIKWYYWKGSGYSLKATTMMIRPADF*

Gene Symbol:ANGPT2
Accession:NM_001147
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMIEIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSAKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGG
GWTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYR
IHLKGLTGTAGKISSISQPGNDFSTKDGDNDKCICKCSQMLTGGWWFDACGPSNLNGMYYPQRQNTNKFNGIKWYYWKGS
GYSLKATTMMIRPADF*

Gene Symbol:ANGPT2
Accession:NM_001118887
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMIEIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGGG
WTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYRI
HLKGLTGTAGKISSISQPGNDFSTKDGDNDKCICKCSQMLTGGWWFDACGPSNLNGMYYPQRQNTNKFNGIKWYYWKGSG
YSLKATTMMIRPADF*

Gene Symbol:MCPH1
Accession:XM_017013833
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322043
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013829
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172574
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_024596
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534757
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534758
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410916
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363979
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534756
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422234
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363980
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410917
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172575
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322045
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422233
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322042
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013832
Location:INTRON

Gene Symbol:MCPH1
Accession:NR_136159
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000146290 CLINVAR
dbSNP (RS) rs2916747 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ANGPT2 CLINVAR
  MCPH1 CLINVAR
OMIM 601922 CLINVAR
  607117 CLINVAR