Canonical Allele Identifier: CA1012223511

Gene: USH2A USH2A-AS1

Linked Data

• dbSNP Id: rs2035131941
• gnomAD v3: 1-216207183-C-T
• gnomAD v4: 1-216207183-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207183C>T , CM000663.2:g.216207183C>T	GRCh38
NC_000001.10:g.216380525C>T , CM000663.1:g.216380525C>T	GRCh37
NC_000001.9:g.214447148C>T	NCBI36
NG_009497.1:g.221214G>A
NG_009497.2:g.221266G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.3316+90G>A (USH2A) MANE Select	ENSP00000305941.3:n.3316+90G>A
ENST00000674083.1:c.3316+90G>A (USH2A)	ENSP00000501296.1:n.3316+90G>A
ENST00000307340.7:c.3316+90G>A (USH2A)	ENSP00000305941.3:n.3316+90G>A
ENST00000366942.3:c.3316+90G>A (USH2A)	ENSP00000355909.3:n.3316+90G>A
NM_007123.5:c.3316+90G>A (USH2A)	NP_009054.5:n.3316+90G>A
NM_206933.2:c.3316+90G>A (USH2A)	NP_996816.2:n.3316+90G>A
XR_922596.1:n.354+11258C>T (USH2A-AS1)
XR_922597.1:n.354+11258C>T (USH2A-AS1)
XR_922596.3:n.1076+11258C>T (USH2A-AS1)
NM_206933.3:c.3316+90G>A (USH2A)	NP_996816.2:n.3316+90G>A
NM_007123.6:c.3316+90G>A (USH2A)	NP_009054.6:n.3316+90G>A
NM_206933.4:c.3316+90G>A (USH2A) MANE Select	NP_996816.3:n.3316+90G>A