Canonical Allele Identifier: CA344863009

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216217540A>T , CM000663.2:g.216217540A>T	GRCh38
NC_000001.10:g.216390882A>T , CM000663.1:g.216390882A>T	GRCh37
NC_000001.9:g.214457505A>T	NCBI36
NG_009497.1:g.210857T>A
NG_009497.2:g.210909T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.3004T>A (USH2A) MANE Select	NP_996816.3:p.Cys1002Ser
ENST00000307340.8:c.3004T>A (USH2A) MANE Select	ENSP00000305941.3:p.Cys1002Ser
NM_007123.5:c.3004T>A (USH2A)	NP_009054.5:p.Cys1002Ser
NM_007123.6:c.3004T>A (USH2A)	NP_009054.6:p.Cys1002Ser
NM_206933.2:c.3004T>A (USH2A)	NP_996816.2:p.Cys1002Ser
NM_206933.3:c.3004T>A (USH2A)	NP_996816.2:p.Cys1002Ser
ENST00000307340.7:c.3004T>A (USH2A)	ENSP00000305941.3:p.Cys1002Ser
ENST00000366942.3:c.3004T>A (USH2A)	ENSP00000355909.3:p.Cys1002Ser
ENST00000674083.1:c.3004T>A (USH2A)	ENSP00000501296.1:p.Cys1002Ser
XR_922596.1:n.355-7847A>T (USH2A-AS1)
XR_922596.3:n.1077-7847A>T (USH2A-AS1)
XR_922597.1:n.355-20295A>T (USH2A-AS1)