Canonical Allele Identifier: CA344911655

Gene: USH2A

Linked Data

• COSMIC: COSM5917479 ; COSM5917480 ; COSM5917481
• MyVariant Identifiers: chr1:g.216497588C>T (hg19) ; chr1:g.216324246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324246C>T , CM000663.2:g.216324246C>T	GRCh38
NC_000001.10:g.216497588C>T , CM000663.1:g.216497588C>T	GRCh37
NC_000001.9:g.214564211C>T	NCBI36
NG_009497.1:g.104151G>A
NG_009497.2:g.104203G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1250G>A MANE Select	ENSP00000305941.3:p.Arg417Lys
ENST00000674083.1:c.1250G>A	ENSP00000501296.1:p.Arg417Lys
ENST00000307340.7:c.1250G>A	ENSP00000305941.3:p.Arg417Lys
ENST00000366942.3:c.1250G>A	ENSP00000355909.3:p.Arg417Lys
NM_007123.5:c.1250G>A	NP_009054.5:p.Arg417Lys
NM_206933.2:c.1250G>A	NP_996816.2:p.Arg417Lys
NM_206933.3:c.1250G>A	NP_996816.2:p.Arg417Lys
NM_007123.6:c.1250G>A	NP_009054.6:p.Arg417Lys
NM_206933.4:c.1250G>A MANE Select	NP_996816.3:p.Arg417Lys