Canonical Allele Identifier: CA2125313

Gene: DES

Linked Data

• dbSNP Id: rs760162211
• ExAC: 2:220290645 T / C
• gnomAD v2: 2-220290645-T-C
• gnomAD v3: 2-219425923-T-C
• gnomAD v4: 2-219425923-T-C
• MyVariant Identifiers: chr2:g.220290645T>C (hg19) ; chr2:g.219425923T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425923T>C , CM000664.2:g.219425923T>C	GRCh38
NC_000002.11:g.220290645T>C , CM000664.1:g.220290645T>C	GRCh37
NC_000002.10:g.219998889T>C	NCBI36
NG_008043.1:g.12547T>C , LRG_380:g.12547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-26T>C
ENST00000683013.1:n.760-26T>C
ENST00000373960.4:c.1372-26T>C MANE Select	ENSP00000363071.3:n.1372-26T>C
ENST00000373960.3:c.1372-26T>C	ENSP00000363071.3:n.1372-26T>C
ENST00000483395.1:n.227-26T>C
NM_001927.3:c.1372-26T>C , LRG_380t1:c.1372-26T>C	NP_001918.3:n.1372-26T>C
NM_001927.4:c.1372-26T>C MANE Select	NP_001918.3:n.1372-26T>C
NM_001382708.1:c.1369-26T>C	NP_001369637.1:n.1369-26T>C
NM_001382709.1:c.940-26T>C	NP_001369638.1:n.940-26T>C
NM_001382710.1:c.1303-26T>C	NP_001369639.1:n.1303-26T>C
NM_001382711.1:c.1351-26T>C	NP_001369640.1:n.1351-26T>C
NM_001382712.1:c.1371+178T>C	NP_001369641.1:n.1371+178T>C
NM_001382713.1:c.1102-26T>C	NP_001369642.1:n.1102-26T>C