Canonical Allele Identifier: CA431427943

Gene: DES

Linked Data

• dbSNP Id: rs1163205960
• gnomAD v2: 2-220283718-C-G
• gnomAD v4: 2-219418996-C-G
• MyVariant Identifiers: chr2:g.220283718C>G (hg19) ; chr2:g.219418996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418996C>G , CM000664.2:g.219418996C>G	GRCh38
NC_000002.11:g.220283718C>G , CM000664.1:g.220283718C>G	GRCh37
NC_000002.10:g.219991962C>G	NCBI36
NG_008043.1:g.5620C>G , LRG_380:g.5620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.534C>G MANE Select	ENSP00000363071.3:p.Val178=
ENST00000373960.3:c.534C>G	ENSP00000363071.3:p.Val178=
NM_001927.3:c.534C>G , LRG_380t1:c.534C>G	NP_001918.3:p.Val178=
NM_001927.4:c.534C>G MANE Select	NP_001918.3:p.Val178=
NM_001382708.1:c.534C>G	NP_001369637.1:p.Val178=
NM_001382709.1:c.534C>G	NP_001369638.1:p.Val178=
NM_001382710.1:c.534C>G	NP_001369639.1:p.Val178=
NM_001382711.1:c.534C>G	NP_001369640.1:p.Val178=
NM_001382712.1:c.534C>G	NP_001369641.1:p.Val178=
NM_001382713.1:c.495+39C>G	NP_001369642.1:n.495+39C>G