Canonical Allele Identifier: CA290579

Gene: DES

Linked Data

• ClinVar Variation Id: 137076
• ClinVar RCV Id: RCV000124667 ; RCV002055522
• dbSNP Id: rs370385097
• ExAC: 2:220285394 C / T
• gnomAD v2: 2-220285394-C-T
• gnomAD v3: 2-219420672-C-T
• gnomAD v4: 2-219420672-C-T
• MyVariant Identifiers: chr2:g.220285394C>T (hg19) ; chr2:g.219420672C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420672C>T , CM000664.2:g.219420672C>T	GRCh38
NC_000002.11:g.220285394C>T , CM000664.1:g.220285394C>T	GRCh37
NC_000002.10:g.219993638C>T	NCBI36
NG_008043.1:g.7296C>T , LRG_380:g.7296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.371+16C>T
ENST00000683013.1:n.285+16C>T
ENST00000373960.4:c.897+16C>T MANE Select	ENSP00000363071.3:n.897+16C>T
ENST00000373960.3:c.897+16C>T	ENSP00000363071.3:n.897+16C>T
ENST00000477226.5:n.369+16C>T
ENST00000492726.1:n.292+16C>T
NM_001927.3:c.897+16C>T , LRG_380t1:c.897+16C>T	NP_001918.3:n.897+16C>T
NM_001927.4:c.897+16C>T MANE Select	NP_001918.3:n.897+16C>T
NM_001382708.1:c.894+16C>T	NP_001369637.1:n.894+16C>T
NM_001382709.1:c.735+326C>T	NP_001369638.1:n.735+326C>T
NM_001382710.1:c.897+16C>T	NP_001369639.1:n.897+16C>T
NM_001382711.1:c.897+16C>T	NP_001369640.1:n.897+16C>T
NM_001382712.1:c.897+16C>T	NP_001369641.1:n.897+16C>T
NM_001382713.1:c.627+16C>T	NP_001369642.1:n.627+16C>T