Canonical Allele Identifier: CA731338329

Gene: USH2A

Linked Data

• dbSNP Id: rs1171795494
• gnomAD v3: 1-215781902-G-A
• gnomAD v4: 1-215781902-G-A
• MyVariant Identifiers: chr1:g.215955244G>A (hg19) ; chr1:g.215781902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781902G>A , CM000663.2:g.215781902G>A	GRCh38
NC_000001.10:g.215955244G>A , CM000663.1:g.215955244G>A	GRCh37
NC_000001.9:g.214021867G>A	NCBI36
NG_009497.1:g.646495C>T
NG_009497.2:g.646547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+140C>T MANE Select	ENSP00000305941.3:n.10740+140C>T
ENST00000674083.1:c.10740+140C>T	ENSP00000501296.1:n.10740+140C>T
ENST00000307340.7:c.10740+140C>T	ENSP00000305941.3:n.10740+140C>T
NM_206933.2:c.10740+140C>T	NP_996816.2:n.10740+140C>T
NM_206933.3:c.10740+140C>T	NP_996816.2:n.10740+140C>T
NM_206933.4:c.10740+140C>T MANE Select	NP_996816.3:n.10740+140C>T