Canonical Allele Identifier: CA344850087
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1943915
ClinVar RCV Id: RCV002670975
dbSNP Id: rs1318080858
gnomAD v2: 1-215972446-T-G
gnomAD v4: 1-215799104-T-G
MyVariant Identifiers: chr1:g.215972446T>G (hg19) chr1:g.215799104T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799104T>G , CM000663.2:g.215799104T>G GRCh38
NC_000001.10:g.215972446T>G , CM000663.1:g.215972446T>G GRCh37
NC_000001.9:g.214039069T>G NCBI36
NG_009497.1:g.629293A>C
NG_009497.2:g.629345A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9761A>C MANE Select ENSP00000305941.3:p.Glu3254Ala
ENST00000674083.1:c.9761A>C ENSP00000501296.1:p.Glu3254Ala
ENST00000307340.7:c.9761A>C ENSP00000305941.3:p.Glu3254Ala
NM_206933.2:c.9761A>C NP_996816.2:p.Glu3254Ala
NM_206933.3:c.9761A>C NP_996816.2:p.Glu3254Ala
NM_206933.4:c.9761A>C MANE Select NP_996816.3:p.Glu3254Ala
Search 100 bp 5'
Search 100 bp 3'