Canonical Allele Identifier: CA344849664
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 801609
ClinVar RCV Id: RCV000986517
dbSNP Id: rs1571949388
MyVariant Identifiers: chr1:g.215848541A>G (hg19) chr1:g.215675199A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675199A>G , CM000663.2:g.215675199A>G GRCh38
NC_000001.10:g.215848541A>G , CM000663.1:g.215848541A>G GRCh37
NC_000001.9:g.213915164A>G NCBI36
NG_009497.1:g.753198T>C
NG_009497.2:g.753250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12712T>C MANE Select ENSP00000305941.3:p.Tyr4238His
ENST00000674083.1:c.12712T>C ENSP00000501296.1:p.Tyr4238His
ENST00000307340.7:c.12712T>C ENSP00000305941.3:p.Tyr4238His
NM_206933.2:c.12712T>C NP_996816.2:p.Tyr4238His
NM_206933.3:c.12712T>C NP_996816.2:p.Tyr4238His
NM_206933.4:c.12712T>C MANE Select NP_996816.3:p.Tyr4238His
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