Canonical Allele Identifier: CA431427670

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220284978G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420256G>A , CM000664.2:g.219420256G>A	GRCh38
NC_000002.11:g.220284978G>A , CM000664.1:g.220284978G>A	GRCh37
NC_000002.10:g.219993222G>A	NCBI36
NG_008043.1:g.6880G>A , LRG_380:g.6880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.119G>A
ENST00000683013.1:n.33G>A
ENST00000373960.4:c.645G>A MANE Select	ENSP00000363071.3:p.Val215=
ENST00000373960.3:c.645G>A	ENSP00000363071.3:p.Val215=
ENST00000477226.5:n.117G>A
ENST00000492726.1:n.40G>A
NM_001927.3:c.645G>A , LRG_380t1:c.645G>A	NP_001918.3:p.Val215=
NM_001927.4:c.645G>A MANE Select	NP_001918.3:p.Val215=
NM_001382708.1:c.642G>A	NP_001369637.1:p.Val214=
NM_001382709.1:c.645G>A	NP_001369638.1:p.Val215=
NM_001382710.1:c.645G>A	NP_001369639.1:p.Val215=
NM_001382711.1:c.645G>A	NP_001369640.1:p.Val215=
NM_001382712.1:c.645G>A	NP_001369641.1:p.Val215=
NM_001382713.1:c.496-269G>A	NP_001369642.1:n.496-269G>A