RGD:8625749 Rat Genome Database

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Variant: RGD:8625749 -  Homo sapiens

RGD ID: 8625749
ClinVar ID: CV80873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HAND2  HAND2-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 174,450,080
GRCh38 4 173,528,929
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.10:g.174686655C>T
NM_021973.2:c.361G>A
NC_000004.12:g.173528929C>T
NC_000004.11:g.174450080C>T
More...
missense|missense variant|2kb upstream variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:HAND2
Accession:NM_021973
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLVGGFPHHPVVHHEGYPFAAAAAAAAAAAASRCSHEENPYFHGWLIGHPEMSPPDYSMALSYSPEYASGAAGLDHSHY
GGVPPGAGPPGLGGPRPVKRRGTANRKERRRTQSINSAFA*LRECIPNVPADTKLSKIKTLRLATSYIAYLMDLLAKDDQ
NGEAEAFKAEIKKTDVKEEKRKKELNEILKSTVSSNDKKTKGRTGWPQHVWALELKQ*

Gene Symbol:HAND2-AS1
Accession:NR_136192
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136194
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136200
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136198
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136193
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136196
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136197
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136201
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_003679
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136195
Location:INTRON;NON-CODING

Gene Symbol:HAND2-AS1
Accession:NR_136199
Location:INTRON;NON-CODING

Variant Samples