Canonical Allele Identifier: CA344911658

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216497591G>A (hg19) ; chr1:g.216324249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324249G>A , CM000663.2:g.216324249G>A	GRCh38
NC_000001.10:g.216497591G>A , CM000663.1:g.216497591G>A	GRCh37
NC_000001.9:g.214564214G>A	NCBI36
NG_009497.1:g.104148C>T
NG_009497.2:g.104200C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1247C>T MANE Select	ENSP00000305941.3:p.Ala416Val
ENST00000674083.1:c.1247C>T	ENSP00000501296.1:p.Ala416Val
ENST00000307340.7:c.1247C>T	ENSP00000305941.3:p.Ala416Val
ENST00000366942.3:c.1247C>T	ENSP00000355909.3:p.Ala416Val
NM_007123.5:c.1247C>T	NP_009054.5:p.Ala416Val
NM_206933.2:c.1247C>T	NP_996816.2:p.Ala416Val
NM_206933.3:c.1247C>T	NP_996816.2:p.Ala416Val
NM_007123.6:c.1247C>T	NP_009054.6:p.Ala416Val
NM_206933.4:c.1247C>T MANE Select	NP_996816.3:p.Ala416Val