Canonical Allele Identifier: CA2650528359

Gene: USH2A

Linked Data

• gnomAD v4: 1-215816957-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215816957G>A , CM000663.2:g.215816957G>A	GRCh38
NC_000001.10:g.215990299G>A , CM000663.1:g.215990299G>A	GRCh37
NC_000001.9:g.214056922G>A	NCBI36
NG_009497.1:g.611440C>T
NG_009497.2:g.611492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9570+40C>T MANE Select	ENSP00000305941.3:n.9570+40C>T
ENST00000674083.1:c.9570+40C>T	ENSP00000501296.1:n.9570+40C>T
ENST00000307340.7:c.9570+40C>T	ENSP00000305941.3:n.9570+40C>T
NM_206933.2:c.9570+40C>T	NP_996816.2:n.9570+40C>T
NM_206933.3:c.9570+40C>T	NP_996816.2:n.9570+40C>T
NM_206933.4:c.9570+40C>T MANE Select	NP_996816.3:n.9570+40C>T