RGD:155935250 Rat Genome Database

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Variant: RGD:155935250 -  Homo sapiens

RGD ID: 155935250
ClinVar ID: CV2225534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EARS2  LOC130058664  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 23,568,629
GRCh38 16 23,557,308
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019116.1:c.238C>G
NM_001083614.2:c.36G>C
NM_001308211.1:c.36G>C
NM_133451.1:c.36G>C
More... 		07/20/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EARS2
Accession:XM_011545738
Location:5UTRS;EXON

Gene Symbol:EARS2
Accession:NM_001083614
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLRRLLQRDRPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQ
TRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQT
PRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAE
NQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTK
YSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS*

Gene Symbol:EARS2
Accession:NM_001308211
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLRRLLQRDRPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQ
TRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQT
PRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAE
NQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTK
YSNVMKLLRMALSGQQVRQGHGLDCSLEPLIDPLNLHFLAGTELNIEYTKVNET*

Gene Symbol:EARS2
Accession:NR_003501
Location:EXON;NON-CODING

Gene Symbol:EARS2
Accession:XR_001751841
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002729358 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene EARS2 CLINVAR
  LOC130058664 CLINVAR
OMIM 612799 CLINVAR