Canonical Allele Identifier: CA2747720733

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779817G>T , CM000663.2:g.215779817G>T	GRCh38
NC_000001.10:g.215953159G>T , CM000663.1:g.215953159G>T	GRCh37
NC_000001.9:g.214019782G>T	NCBI36
NG_009497.1:g.648580C>A
NG_009497.2:g.648632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+26C>A MANE Select	ENSP00000305941.3:n.10939+26C>A
ENST00000674083.1:c.10939+26C>A	ENSP00000501296.1:n.10939+26C>A
ENST00000307340.7:c.10939+26C>A	ENSP00000305941.3:n.10939+26C>A
NM_206933.2:c.10939+26C>A	NP_996816.2:n.10939+26C>A
NM_206933.3:c.10939+26C>A	NP_996816.2:n.10939+26C>A
NM_206933.4:c.10939+26C>A MANE Select	NP_996816.3:n.10939+26C>A