Canonical Allele Identifier: CA2747722346

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215813912T>A , CM000663.2:g.215813912T>A	GRCh38
NC_000001.10:g.215987254T>A , CM000663.1:g.215987254T>A	GRCh37
NC_000001.9:g.214053877T>A	NCBI36
NG_009497.1:g.614485A>T
NG_009497.2:g.614537A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9571-8A>T MANE Select	ENSP00000305941.3:n.9571-8A>T
ENST00000674083.1:c.9571-8A>T	ENSP00000501296.1:n.9571-8A>T
ENST00000307340.7:c.9571-8A>T	ENSP00000305941.3:n.9571-8A>T
NM_206933.2:c.9571-8A>T	NP_996816.2:n.9571-8A>T
NM_206933.3:c.9571-8A>T	NP_996816.2:n.9571-8A>T
NM_206933.4:c.9571-8A>T MANE Select	NP_996816.3:n.9571-8A>T