Canonical Allele Identifier: CA539629360

Gene: DES

Linked Data

• dbSNP Id: rs1161267900
• gnomAD v2: 2-220290343-C-T
• gnomAD v4: 2-219425621-C-T
• MyVariant Identifiers: chr2:g.220290343C>T (hg19) ; chr2:g.219425621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425621C>T , CM000664.2:g.219425621C>T	GRCh38
NC_000002.11:g.220290343C>T , CM000664.1:g.220290343C>T	GRCh37
NC_000002.10:g.219998587C>T	NCBI36
NG_008043.1:g.12245C>T , LRG_380:g.12245C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.763-42C>T
ENST00000683013.1:n.677-42C>T
ENST00000373960.4:c.1289-42C>T MANE Select	ENSP00000363071.3:n.1289-42C>T
ENST00000373960.3:c.1289-42C>T	ENSP00000363071.3:n.1289-42C>T
ENST00000483395.1:n.102C>T
NM_001927.3:c.1289-42C>T , LRG_380t1:c.1289-42C>T	NP_001918.3:n.1289-42C>T
NM_001927.4:c.1289-42C>T MANE Select	NP_001918.3:n.1289-42C>T
NM_001382708.1:c.1286-42C>T	NP_001369637.1:n.1286-42C>T
NM_001382709.1:c.857-42C>T	NP_001369638.1:n.857-42C>T
NM_001382710.1:c.1220-42C>T	NP_001369639.1:n.1220-42C>T
NM_001382711.1:c.1268-42C>T	NP_001369640.1:n.1268-42C>T
NM_001382712.1:c.1289-42C>T	NP_001369641.1:n.1289-42C>T
NM_001382713.1:c.1019-42C>T	NP_001369642.1:n.1019-42C>T