Canonical Allele Identifier: CA2125101

Gene: DES

Linked Data

• dbSNP Id: rs577691261
• ExAC: 2:220284911 T / C
• gnomAD v2: 2-220284911-T-C
• gnomAD v3: 2-219420189-T-C
• gnomAD v4: 2-219420189-T-C
• MyVariant Identifiers: chr2:g.220284911T>C (hg19) ; chr2:g.219420189T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420189T>C , CM000664.2:g.219420189T>C	GRCh38
NC_000002.11:g.220284911T>C , CM000664.1:g.220284911T>C	GRCh37
NC_000002.10:g.219993155T>C	NCBI36
NG_008043.1:g.6813T>C , LRG_380:g.6813T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.113+34T>C
ENST00000373960.4:c.639+34T>C MANE Select	ENSP00000363071.3:n.639+34T>C
ENST00000373960.3:c.639+34T>C	ENSP00000363071.3:n.639+34T>C
ENST00000477226.5:n.111+34T>C
ENST00000492726.1:n.34+34T>C
NM_001927.3:c.639+34T>C , LRG_380t1:c.639+34T>C	NP_001918.3:n.639+34T>C
NM_001927.4:c.639+34T>C MANE Select	NP_001918.3:n.639+34T>C
NM_001382708.1:c.636+37T>C	NP_001369637.1:n.636+37T>C
NM_001382709.1:c.639+34T>C	NP_001369638.1:n.639+34T>C
NM_001382710.1:c.639+34T>C	NP_001369639.1:n.639+34T>C
NM_001382711.1:c.639+34T>C	NP_001369640.1:n.639+34T>C
NM_001382712.1:c.639+34T>C	NP_001369641.1:n.639+34T>C
NM_001382713.1:c.496-336T>C	NP_001369642.1:n.496-336T>C