Canonical Allele Identifier: CA2125308

Gene: DES

Linked Data

• dbSNP Id: rs773562808
• ExAC: 2:220290620 C / T
• gnomAD v2: 2-220290620-C-T
• gnomAD v4: 2-219425898-C-T
• MyVariant Identifiers: chr2:g.220290620C>T (hg19) ; chr2:g.219425898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425898C>T , CM000664.2:g.219425898C>T	GRCh38
NC_000002.11:g.220290620C>T , CM000664.1:g.220290620C>T	GRCh37
NC_000002.10:g.219998864C>T	NCBI36
NG_008043.1:g.12522C>T , LRG_380:g.12522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-51C>T
ENST00000683013.1:n.760-51C>T
ENST00000373960.4:c.1372-51C>T MANE Select	ENSP00000363071.3:n.1372-51C>T
ENST00000373960.3:c.1372-51C>T	ENSP00000363071.3:n.1372-51C>T
ENST00000483395.1:n.227-51C>T
NM_001927.3:c.1372-51C>T , LRG_380t1:c.1372-51C>T	NP_001918.3:n.1372-51C>T
NM_001927.4:c.1372-51C>T MANE Select	NP_001918.3:n.1372-51C>T
NM_001382708.1:c.1369-51C>T	NP_001369637.1:n.1369-51C>T
NM_001382709.1:c.940-51C>T	NP_001369638.1:n.940-51C>T
NM_001382710.1:c.1303-51C>T	NP_001369639.1:n.1303-51C>T
NM_001382711.1:c.1351-51C>T	NP_001369640.1:n.1351-51C>T
NM_001382712.1:c.1371+153C>T	NP_001369641.1:n.1371+153C>T
NM_001382713.1:c.1102-51C>T	NP_001369642.1:n.1102-51C>T