Canonical Allele Identifier: CA37435456

Gene: USH2A

Linked Data

• dbSNP Id: rs1049580465
• gnomAD v3: 1-215779637-T-A
• gnomAD v4: 1-215779637-T-A
• MyVariant Identifiers: chr1:g.215952979T>A (hg19) ; chr1:g.215779637T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779637T>A , CM000663.2:g.215779637T>A	GRCh38
NC_000001.10:g.215952979T>A , CM000663.1:g.215952979T>A	GRCh37
NC_000001.9:g.214019602T>A	NCBI36
NG_009497.1:g.648760A>T
NG_009497.2:g.648812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+206A>T MANE Select	ENSP00000305941.3:n.10939+206A>T
ENST00000674083.1:c.10939+206A>T	ENSP00000501296.1:n.10939+206A>T
ENST00000307340.7:c.10939+206A>T	ENSP00000305941.3:n.10939+206A>T
NM_206933.2:c.10939+206A>T	NP_996816.2:n.10939+206A>T
NM_206933.3:c.10939+206A>T	NP_996816.2:n.10939+206A>T
NM_206933.4:c.10939+206A>T MANE Select	NP_996816.3:n.10939+206A>T