Canonical Allele Identifier: CA344849538
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1464422
ClinVar RCV Id: RCV001975448
dbSNP Id: rs1416457172
gnomAD v2: 1-215848528-G-A
gnomAD v4: 1-215675186-G-A
MyVariant Identifiers: chr1:g.215848528G>A (hg19) chr1:g.215675186G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675186G>A , CM000663.2:g.215675186G>A GRCh38
NC_000001.10:g.215848528G>A , CM000663.1:g.215848528G>A GRCh37
NC_000001.9:g.213915151G>A NCBI36
NG_009497.1:g.753211C>T
NG_009497.2:g.753263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12725C>T MANE Select ENSP00000305941.3:p.Thr4242Ile
ENST00000674083.1:c.12725C>T ENSP00000501296.1:p.Thr4242Ile
ENST00000307340.7:c.12725C>T ENSP00000305941.3:p.Thr4242Ile
NM_206933.2:c.12725C>T NP_996816.2:p.Thr4242Ile
NM_206933.3:c.12725C>T NP_996816.2:p.Thr4242Ile
NM_206933.4:c.12725C>T MANE Select NP_996816.3:p.Thr4242Ile
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