Canonical Allele Identifier: CA528711576

Gene: USH2A

Linked Data

• dbSNP Id: rs1159399737
• gnomAD v2: 1-215955333-T-C
• gnomAD v4: 1-215781991-T-C
• MyVariant Identifiers: chr1:g.215955333T>C (hg19) ; chr1:g.215781991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781991T>C , CM000663.2:g.215781991T>C	GRCh38
NC_000001.10:g.215955333T>C , CM000663.1:g.215955333T>C	GRCh37
NC_000001.9:g.214021956T>C	NCBI36
NG_009497.1:g.646406A>G
NG_009497.2:g.646458A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10740+51A>G MANE Select	ENSP00000305941.3:n.10740+51A>G
ENST00000674083.1:c.10740+51A>G	ENSP00000501296.1:n.10740+51A>G
ENST00000307340.7:c.10740+51A>G	ENSP00000305941.3:n.10740+51A>G
NM_206933.2:c.10740+51A>G	NP_996816.2:n.10740+51A>G
NM_206933.3:c.10740+51A>G	NP_996816.2:n.10740+51A>G
NM_206933.4:c.10740+51A>G MANE Select	NP_996816.3:n.10740+51A>G