Canonical Allele Identifier: CA344867666

Gene: USH2A USH2A-AS1

Linked Data

• dbSNP Id: rs1282426752
• gnomAD v2: 1-216372986-G-A
• gnomAD v4: 1-216199644-G-A
• COSMIC: COSM6188795 ; COSM6188796 ; COSM6188797
• MyVariant Identifiers: chr1:g.216372986G>A (hg19) ; chr1:g.216199644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199644G>A , CM000663.2:g.216199644G>A	GRCh38
NC_000001.10:g.216372986G>A , CM000663.1:g.216372986G>A	GRCh37
NC_000001.9:g.214439609G>A	NCBI36
NG_009497.1:g.228753C>T
NG_009497.2:g.228805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3794C>T (USH2A) MANE Select	ENSP00000305941.3:p.Pro1265Leu
ENST00000674083.1:c.3794C>T (USH2A)	ENSP00000501296.1:p.Pro1265Leu
ENST00000307340.7:c.3794C>T (USH2A)	ENSP00000305941.3:p.Pro1265Leu
ENST00000366942.3:c.3794C>T (USH2A)	ENSP00000355909.3:p.Pro1265Leu
NM_007123.5:c.3794C>T (USH2A)	NP_009054.5:p.Pro1265Leu
NM_206933.2:c.3794C>T (USH2A)	NP_996816.2:p.Pro1265Leu
XR_922595.1:n.354+3719G>A (USH2A-AS1)
XR_922596.1:n.354+3719G>A (USH2A-AS1)
XR_922597.1:n.354+3719G>A (USH2A-AS1)
XR_922598.1:n.484+3719G>A (USH2A-AS1)
XR_922595.3:n.1076+3719G>A (USH2A-AS1)
XR_922596.3:n.1076+3719G>A (USH2A-AS1)
NM_206933.3:c.3794C>T (USH2A)	NP_996816.2:p.Pro1265Leu
NM_007123.6:c.3794C>T (USH2A)	NP_009054.6:p.Pro1265Leu
NM_206933.4:c.3794C>T (USH2A) MANE Select	NP_996816.3:p.Pro1265Leu