Canonical Allele Identifier: CA423431531

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216420471C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247129C>G , CM000663.2:g.216247129C>G	GRCh38
NC_000001.10:g.216420471C>G , CM000663.1:g.216420471C>G	GRCh37
NC_000001.9:g.214487094C>G	NCBI36
NG_009497.1:g.181268G>C
NG_009497.2:g.181320G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.2265G>C MANE Select	ENSP00000305941.3:p.Val755=
ENST00000674083.1:c.2265G>C	ENSP00000501296.1:p.Val755=
ENST00000307340.7:c.2265G>C	ENSP00000305941.3:p.Val755=
ENST00000366942.3:c.2265G>C	ENSP00000355909.3:p.Val755=
NM_007123.5:c.2265G>C	NP_009054.5:p.Val755=
NM_206933.2:c.2265G>C	NP_996816.2:p.Val755=
NM_206933.3:c.2265G>C	NP_996816.2:p.Val755=
NM_007123.6:c.2265G>C	NP_009054.6:p.Val755=
NM_206933.4:c.2265G>C MANE Select	NP_996816.3:p.Val755=