Canonical Allele Identifier: CA344865024

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216190221A>C , CM000663.2:g.216190221A>C	GRCh38
NC_000001.10:g.216363563A>C , CM000663.1:g.216363563A>C	GRCh37
NC_000001.9:g.214430186A>C	NCBI36
NG_009497.1:g.238176T>G
NG_009497.2:g.238228T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.4396+2T>G MANE Select	NP_996816.3:n.4396+2T>G
ENST00000307340.8:c.4396+2T>G MANE Select	ENSP00000305941.3:n.4396+2T>G
NM_007123.5:c.4396+2T>G	NP_009054.5:n.4396+2T>G
NM_007123.6:c.4396+2T>G	NP_009054.6:n.4396+2T>G
NM_206933.2:c.4396+2T>G	NP_996816.2:n.4396+2T>G
NM_206933.3:c.4396+2T>G	NP_996816.2:n.4396+2T>G
ENST00000307340.7:c.4396+2T>G	ENSP00000305941.3:n.4396+2T>G
ENST00000366942.3:c.4396+2T>G	ENSP00000355909.3:n.4396+2T>G
ENST00000674083.1:c.4396+2T>G	ENSP00000501296.1:n.4396+2T>G