Canonical Allele Identifier: CA431285632

Gene: DES

Linked Data

• dbSNP Id: rs1135931
• gnomAD v3: 2-219425963-C-T
• gnomAD v4: 2-219425963-C-T
• MyVariant Identifiers: chr2:g.220290685C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425963C>T , CM000664.2:g.219425963C>T	GRCh38
NC_000002.11:g.220290685C>T , CM000664.1:g.220290685C>T	GRCh37
NC_000002.10:g.219998929C>T	NCBI36
NG_008043.1:g.12587C>T , LRG_380:g.12587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.860C>T
ENST00000683013.1:n.774C>T
ENST00000373960.4:c.1386C>T MANE Select	ENSP00000363071.3:p.Ala462=
ENST00000373960.3:c.1386C>T	ENSP00000363071.3:p.Ala462=
ENST00000483395.1:n.241C>T
NM_001927.3:c.1386C>T , LRG_380t1:c.1386C>T	NP_001918.3:p.Ala462=
NM_001927.4:c.1386C>T MANE Select	NP_001918.3:p.Ala462=
NM_001382708.1:c.1383C>T	NP_001369637.1:p.Ala461=
NM_001382709.1:c.954C>T	NP_001369638.1:p.Ala318=
NM_001382710.1:c.1317C>T	NP_001369639.1:p.Ala439=
NM_001382711.1:c.1365C>T	NP_001369640.1:p.Ala455=
NM_001382712.1:c.1371+218C>T	NP_001369641.1:n.1371+218C>T
NM_001382713.1:c.1116C>T	NP_001369642.1:p.Ala372=