Canonical Allele Identifier: CA65987465

Gene: DES

Linked Data

• dbSNP Id: rs1040087255
• gnomAD v3: 2-219426342-A-G
• gnomAD v4: 2-219426342-A-G
• MyVariant Identifiers: chr2:g.220291064A>G (hg19) ; chr2:g.219426342A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426342A>G , CM000664.2:g.219426342A>G	GRCh38
NC_000002.11:g.220291064A>G , CM000664.1:g.220291064A>G	GRCh37
NC_000002.10:g.219999308A>G	NCBI36
NG_008043.1:g.12966A>G , LRG_380:g.12966A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.1239A>G
ENST00000683013.1:n.1153A>G
ENST00000373960.4:c.*352A>G MANE Select	ENSP00000363071.3:n.*352A>G
ENST00000373960.3:c.*352A>G	ENSP00000363071.3:n.*352A>G
NM_001927.3:c.*352A>G , LRG_380t1:c.*352A>G	NP_001918.3:n.*352A>G
NM_001927.4:c.*352A>G MANE Select	NP_001918.3:n.*352A>G
NM_001382708.1:c.*352A>G	NP_001369637.1:n.*352A>G
NM_001382709.1:c.*352A>G	NP_001369638.1:n.*352A>G
NM_001382710.1:c.*352A>G	NP_001369639.1:n.*352A>G
NM_001382711.1:c.*352A>G	NP_001369640.1:n.*352A>G
NM_001382712.1:c.1372-211A>G	NP_001369641.1:n.1372-211A>G
NM_001382713.1:c.*352A>G	NP_001369642.1:n.*352A>G