Canonical Allele Identifier: CA423431600

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1108281
• ClinVar RCV Id: RCV001433741
• dbSNP Id: rs2102546321
• MyVariant Identifiers: chr1:g.216420495G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247153G>A , CM000663.2:g.216247153G>A	GRCh38
NC_000001.10:g.216420495G>A , CM000663.1:g.216420495G>A	GRCh37
NC_000001.9:g.214487118G>A	NCBI36
NG_009497.1:g.181244C>T
NG_009497.2:g.181296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2241C>T MANE Select	ENSP00000305941.3:p.Cys747=
ENST00000674083.1:c.2241C>T	ENSP00000501296.1:p.Cys747=
ENST00000307340.7:c.2241C>T	ENSP00000305941.3:p.Cys747=
ENST00000366942.3:c.2241C>T	ENSP00000355909.3:p.Cys747=
NM_007123.5:c.2241C>T	NP_009054.5:p.Cys747=
NM_206933.2:c.2241C>T	NP_996816.2:p.Cys747=
NM_206933.3:c.2241C>T	NP_996816.2:p.Cys747=
NM_007123.6:c.2241C>T	NP_009054.6:p.Cys747=
NM_206933.4:c.2241C>T MANE Select	NP_996816.3:p.Cys747=