Canonical Allele Identifier: CA539843132

Gene: DES

Linked Data

• ClinVar Variation Id: 3029613
• ClinVar RCV Id: RCV003896713
• dbSNP Id: rs113252016
• gnomAD v2: 2-220285214-C-T
• gnomAD v4: 2-219420492-C-T
• MyVariant Identifiers: chr2:g.220285214C>T (hg19) ; chr2:g.219420492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420492C>T , CM000664.2:g.219420492C>T	GRCh38
NC_000002.11:g.220285214C>T , CM000664.1:g.220285214C>T	GRCh37
NC_000002.10:g.219993458C>T	NCBI36
NG_008043.1:g.7116C>T , LRG_380:g.7116C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.210-3C>T
ENST00000683013.1:n.124-3C>T
ENST00000373960.4:c.736-3C>T MANE Select	ENSP00000363071.3:n.736-3C>T
ENST00000373960.3:c.736-3C>T	ENSP00000363071.3:n.736-3C>T
ENST00000477226.5:n.208-3C>T
ENST00000492726.1:n.131-3C>T
NM_001927.3:c.736-3C>T , LRG_380t1:c.736-3C>T	NP_001918.3:n.736-3C>T
NM_001927.4:c.736-3C>T MANE Select	NP_001918.3:n.736-3C>T
NM_001382708.1:c.733-3C>T	NP_001369637.1:n.733-3C>T
NM_001382709.1:c.735+146C>T	NP_001369638.1:n.735+146C>T
NM_001382710.1:c.736-3C>T	NP_001369639.1:n.736-3C>T
NM_001382711.1:c.736-3C>T	NP_001369640.1:n.736-3C>T
NM_001382712.1:c.736-3C>T	NP_001369641.1:n.736-3C>T
NM_001382713.1:c.496-33C>T	NP_001369642.1:n.496-33C>T