Canonical Allele Identifier: CA65983231

Gene: DES

Linked Data

• dbSNP Id: rs2669119
• MyVariant Identifiers: chr2:g.220285963T>A (hg19) ; chr2:g.219421241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421241T>A , CM000664.2:g.219421241T>A	GRCh38
NC_000002.11:g.220285963T>A , CM000664.1:g.220285963T>A	GRCh37
NC_000002.10:g.219994207T>A	NCBI36
NG_008043.1:g.7865T>A , LRG_380:g.7865T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.498-99T>A
ENST00000683013.1:n.412-99T>A
ENST00000373960.4:c.1024-99T>A MANE Select	ENSP00000363071.3:n.1024-99T>A
ENST00000373960.3:c.1024-99T>A	ENSP00000363071.3:n.1024-99T>A
ENST00000477226.5:n.496-99T>A
ENST00000492726.1:n.419-99T>A
NM_001927.3:c.1024-99T>A , LRG_380t1:c.1024-99T>A	NP_001918.3:n.1024-99T>A
NM_001927.4:c.1024-99T>A MANE Select	NP_001918.3:n.1024-99T>A
NM_001382708.1:c.1021-99T>A	NP_001369637.1:n.1021-99T>A
NM_001382709.1:c.736-243T>A	NP_001369638.1:n.736-243T>A
NM_001382710.1:c.1024-168T>A	NP_001369639.1:n.1024-168T>A
NM_001382711.1:c.1024-120T>A	NP_001369640.1:n.1024-120T>A
NM_001382712.1:c.1024-99T>A	NP_001369641.1:n.1024-99T>A
NM_001382713.1:c.754-99T>A	NP_001369642.1:n.754-99T>A