Canonical Allele Identifier: CA423396273

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216591967A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418625A>G , CM000663.2:g.216418625A>G	GRCh38
NC_000001.10:g.216591967A>G , CM000663.1:g.216591967A>G	GRCh37
NC_000001.9:g.214658590A>G	NCBI36
NG_009497.1:g.9772T>C
NG_009497.2:g.9824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.540T>C MANE Select	ENSP00000305941.3:p.Ser180=
ENST00000674083.1:c.540T>C	ENSP00000501296.1:p.Ser180=
ENST00000307340.7:c.540T>C	ENSP00000305941.3:p.Ser180=
ENST00000366942.3:c.540T>C	ENSP00000355909.3:p.Ser180=
NM_007123.5:c.540T>C	NP_009054.5:p.Ser180=
NM_206933.2:c.540T>C	NP_996816.2:p.Ser180=
NM_206933.3:c.540T>C	NP_996816.2:p.Ser180=
NM_007123.6:c.540T>C	NP_009054.6:p.Ser180=
NM_206933.4:c.540T>C MANE Select	NP_996816.3:p.Ser180=