Canonical Allele Identifier: CA344862648

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 1709446
• ClinVar RCV Id: RCV002289261
• MyVariant Identifiers: chr1:g.216380774C>A (hg19) ; chr1:g.216207432C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207432C>A , CM000663.2:g.216207432C>A	GRCh38
NC_000001.10:g.216380774C>A , CM000663.1:g.216380774C>A	GRCh37
NC_000001.9:g.214447397C>A	NCBI36
NG_009497.1:g.220965G>T
NG_009497.2:g.221017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3158-1G>T (USH2A) MANE Select	ENSP00000305941.3:n.3158-1G>T
ENST00000674083.1:c.3158-1G>T (USH2A)	ENSP00000501296.1:n.3158-1G>T
ENST00000307340.7:c.3158-1G>T (USH2A)	ENSP00000305941.3:n.3158-1G>T
ENST00000366942.3:c.3158-1G>T (USH2A)	ENSP00000355909.3:n.3158-1G>T
NM_007123.5:c.3158-1G>T (USH2A)	NP_009054.5:n.3158-1G>T
NM_206933.2:c.3158-1G>T (USH2A)	NP_996816.2:n.3158-1G>T
XR_922596.1:n.354+11507C>A (USH2A-AS1)
XR_922597.1:n.354+11507C>A (USH2A-AS1)
XR_922596.3:n.1076+11507C>A (USH2A-AS1)
NM_206933.3:c.3158-1G>T (USH2A)	NP_996816.2:n.3158-1G>T
NM_007123.6:c.3158-1G>T (USH2A)	NP_009054.6:n.3158-1G>T
NM_206933.4:c.3158-1G>T (USH2A) MANE Select	NP_996816.3:n.3158-1G>T