Canonical Allele Identifier: CA2747737991

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324367T>A , CM000663.2:g.216324367T>A	GRCh38
NC_000001.10:g.216497709T>A , CM000663.1:g.216497709T>A	GRCh37
NC_000001.9:g.214564332T>A	NCBI36
NG_009497.1:g.104030A>T
NG_009497.2:g.104082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1144-15A>T MANE Select	ENSP00000305941.3:n.1144-15A>T
ENST00000674083.1:c.1144-15A>T	ENSP00000501296.1:n.1144-15A>T
ENST00000307340.7:c.1144-15A>T	ENSP00000305941.3:n.1144-15A>T
ENST00000366942.3:c.1144-15A>T	ENSP00000355909.3:n.1144-15A>T
NM_007123.5:c.1144-15A>T	NP_009054.5:n.1144-15A>T
NM_206933.2:c.1144-15A>T	NP_996816.2:n.1144-15A>T
NM_206933.3:c.1144-15A>T	NP_996816.2:n.1144-15A>T
NM_007123.6:c.1144-15A>T	NP_009054.6:n.1144-15A>T
NM_206933.4:c.1144-15A>T MANE Select	NP_996816.3:n.1144-15A>T