Canonical Allele Identifier: CA2650508949

Gene: USH2A

Linked Data

• gnomAD v4: 1-216070348-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070348C>A , CM000663.2:g.216070348C>A	GRCh38
NC_000001.10:g.216243690C>A , CM000663.1:g.216243690C>A	GRCh37
NC_000001.9:g.214310313C>A	NCBI36
NG_009497.1:g.358049G>T
NG_009497.2:g.358101G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-56G>T MANE Select	ENSP00000305941.3:n.5858-56G>T
ENST00000674083.1:c.5858-56G>T	ENSP00000501296.1:n.5858-56G>T
ENST00000307340.7:c.5858-56G>T	ENSP00000305941.3:n.5858-56G>T
NM_206933.2:c.5858-56G>T	NP_996816.2:n.5858-56G>T
NM_206933.3:c.5858-56G>T	NP_996816.2:n.5858-56G>T
NM_206933.4:c.5858-56G>T MANE Select	NP_996816.3:n.5858-56G>T