Canonical Allele Identifier: CA431285616

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290676C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425954C>A , CM000664.2:g.219425954C>A	GRCh38
NC_000002.11:g.220290676C>A , CM000664.1:g.220290676C>A	GRCh37
NC_000002.10:g.219998920C>A	NCBI36
NG_008043.1:g.12578C>A , LRG_380:g.12578C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.851C>A
ENST00000683013.1:n.765C>A
ENST00000373960.4:c.1377C>A MANE Select	ENSP00000363071.3:p.Val459=
ENST00000373960.3:c.1377C>A	ENSP00000363071.3:p.Val459=
ENST00000483395.1:n.232C>A
NM_001927.3:c.1377C>A , LRG_380t1:c.1377C>A	NP_001918.3:p.Val459=
NM_001927.4:c.1377C>A MANE Select	NP_001918.3:p.Val459=
NM_001382708.1:c.1374C>A	NP_001369637.1:p.Val458=
NM_001382709.1:c.945C>A	NP_001369638.1:p.Val315=
NM_001382710.1:c.1308C>A	NP_001369639.1:p.Val436=
NM_001382711.1:c.1356C>A	NP_001369640.1:p.Val452=
NM_001382712.1:c.1371+209C>A	NP_001369641.1:n.1371+209C>A
NM_001382713.1:c.1107C>A	NP_001369642.1:p.Val369=