Canonical Allele Identifier: CA37903437

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216350564C>A , CM000663.2:g.216350564C>A	GRCh38
NC_000001.10:g.216523906C>A , CM000663.1:g.216523906C>A	GRCh37
NC_000001.9:g.214590529C>A	NCBI36
NG_009497.1:g.77833G>T
NG_009497.2:g.77885G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.784+14389G>T MANE Select	NP_996816.3:n.784+14389G>T
ENST00000307340.8:c.784+14389G>T MANE Select	ENSP00000305941.3:n.784+14389G>T
NM_007123.5:c.784+14389G>T	NP_009054.5:n.784+14389G>T
NM_007123.6:c.784+14389G>T	NP_009054.6:n.784+14389G>T
NM_206933.2:c.784+14389G>T	NP_996816.2:n.784+14389G>T
NM_206933.3:c.784+14389G>T	NP_996816.2:n.784+14389G>T
ENST00000307340.7:c.784+14389G>T	ENSP00000305941.3:n.784+14389G>T
ENST00000366942.3:c.784+14389G>T	ENSP00000355909.3:n.784+14389G>T
ENST00000674083.1:c.784+14389G>T	ENSP00000501296.1:n.784+14389G>T