Canonical Allele Identifier: CA344902498

Gene: USH2A

Linked Data

• dbSNP Id: rs2039616609
• COSMIC: COSM5926322 ; COSM5926323 ; COSM5926324
• MyVariant Identifiers: chr1:g.216591936C>T (hg19) ; chr1:g.216418594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418594C>T , CM000663.2:g.216418594C>T	GRCh38
NC_000001.10:g.216591936C>T , CM000663.1:g.216591936C>T	GRCh37
NC_000001.9:g.214658559C>T	NCBI36
NG_009497.1:g.9803G>A
NG_009497.2:g.9855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.571G>A MANE Select	ENSP00000305941.3:p.Val191Ile
ENST00000674083.1:c.571G>A	ENSP00000501296.1:p.Val191Ile
ENST00000307340.7:c.571G>A	ENSP00000305941.3:p.Val191Ile
ENST00000366942.3:c.571G>A	ENSP00000355909.3:p.Val191Ile
NM_007123.5:c.571G>A	NP_009054.5:p.Val191Ile
NM_206933.2:c.571G>A	NP_996816.2:p.Val191Ile
NM_206933.3:c.571G>A	NP_996816.2:p.Val191Ile
NM_007123.6:c.571G>A	NP_009054.6:p.Val191Ile
NM_206933.4:c.571G>A MANE Select	NP_996816.3:p.Val191Ile