RGD:151708936 Rat Genome Database

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Variant: RGD:151708936 -  Homo sapiens

RGD ID: 151708936
RS ID: rs1474459826
ClinVar ID: CV1448981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EARS2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 23,536,653
GRCh38 16 23,525,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001083614.2:c.1400G>C
NR_003501.2:n.1407G>C
NP_001077083.1:p.Gly467Ala
NM_001308211.1:c.1400G>C
More... 		11/14/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EARS2
Accession:NM_001083614
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQ
TRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQT
PRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAE
NQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNAELKKLSEGLEGTK
YSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS*

Gene Symbol:EARS2
Accession:NM_001308211
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQ
TRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQT
PRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAE
NQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNAELKKLSEGLEGTK
YSNVMKLLRMALSGQQVRQGHGLDCSLEPLIDPLNLHFLAGTELNIEYTKVNET*

Gene Symbol:EARS2
Accession:XM_011545738
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 443
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIDDNLCNRCCRRWDTVIIEKGFLHLGGLRTALYNYIFAKKYQGSFILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDE
SPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPK
PAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQAL
GWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSA
LLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPVYSYL
WTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNAELKKLSEGLEGTKYSNVMKLLRMALSGQQQGPPVAEM
MLALGPKEVRERIQKVVSS*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001963894 CLINVAR
dbSNP (RS) rs1474459826 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EARS2 CLINVAR
OMIM 612799 CLINVAR