Canonical Allele Identifier: CA262098

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 48499
• ClinVar RCV Id: RCV000041825 ; RCV000669871 ; RCV000824791 ; RCV001074200 ; RCV001386859 ; RCV003450838
• dbSNP Id: rs397518011
• gnomAD v3: 1-216207280-G-T
• gnomAD v4: 1-216207280-G-T
• MyVariant Identifiers: chr1:g.216380622G>T (hg19) ; chr1:g.216207280G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207280G>T , CM000663.2:g.216207280G>T	GRCh38
NC_000001.10:g.216380622G>T , CM000663.1:g.216380622G>T	GRCh37
NC_000001.9:g.214447245G>T	NCBI36
NG_009497.1:g.221117C>A
NG_009497.2:g.221169C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3309C>A (USH2A) MANE Select	ENSP00000305941.3:p.Tyr1103Ter
ENST00000674083.1:c.3309C>A (USH2A)	ENSP00000501296.1:p.Tyr1103Ter
ENST00000307340.7:c.3309C>A (USH2A)	ENSP00000305941.3:p.Tyr1103Ter
ENST00000366942.3:c.3309C>A (USH2A)	ENSP00000355909.3:p.Tyr1103Ter
NM_007123.5:c.3309C>A (USH2A)	NP_009054.5:p.Tyr1103Ter
NM_206933.2:c.3309C>A (USH2A)	NP_996816.2:p.Tyr1103Ter
XR_922596.1:n.354+11355G>T (USH2A-AS1)
XR_922597.1:n.354+11355G>T (USH2A-AS1)
XR_922596.3:n.1076+11355G>T (USH2A-AS1)
NM_206933.3:c.3309C>A (USH2A)	NP_996816.2:p.Tyr1103Ter
NM_007123.6:c.3309C>A (USH2A)	NP_009054.6:p.Tyr1103Ter
NM_206933.4:c.3309C>A (USH2A) MANE Select	NP_996816.3:p.Tyr1103Ter