Canonical Allele Identifier: CA344822428

Gene: USH2A

Linked Data

• gnomAD v4: 1-215759672-T-A
• MyVariant Identifiers: chr1:g.215933014T>A (hg19) ; chr1:g.215759672T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215759672T>A , CM000663.2:g.215759672T>A	GRCh38
NC_000001.10:g.215933014T>A , CM000663.1:g.215933014T>A	GRCh37
NC_000001.9:g.213999637T>A	NCBI36
NG_009497.1:g.668725A>T
NG_009497.2:g.668777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11219A>T MANE Select	ENSP00000305941.3:p.Glu3740Val
ENST00000674083.1:c.11219A>T	ENSP00000501296.1:p.Glu3740Val
ENST00000307340.7:c.11219A>T	ENSP00000305941.3:p.Glu3740Val
NM_206933.2:c.11219A>T	NP_996816.2:p.Glu3740Val
NM_206933.3:c.11219A>T	NP_996816.2:p.Glu3740Val
NM_206933.4:c.11219A>T MANE Select	NP_996816.3:p.Glu3740Val