Canonical Allele Identifier: CA2650503216

Gene: USH2A

Linked Data

• gnomAD v4: 1-215798896-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215798896G>C , CM000663.2:g.215798896G>C	GRCh38
NC_000001.10:g.215972238G>C , CM000663.1:g.215972238G>C	GRCh37
NC_000001.9:g.214038861G>C	NCBI36
NG_009497.1:g.629501C>G
NG_009497.2:g.629553C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.9958+11C>G MANE Select	ENSP00000305941.3:n.9958+11C>G
ENST00000674083.1:c.9958+11C>G	ENSP00000501296.1:n.9958+11C>G
ENST00000307340.7:c.9958+11C>G	ENSP00000305941.3:n.9958+11C>G
NM_206933.2:c.9958+11C>G	NP_996816.2:n.9958+11C>G
NM_206933.3:c.9958+11C>G	NP_996816.2:n.9958+11C>G
NM_206933.4:c.9958+11C>G MANE Select	NP_996816.3:n.9958+11C>G