Canonical Allele Identifier: CA764964837

Gene: DES

Linked Data

• dbSNP Id: rs1370887451
• gnomAD v3: 2-219419221-C-T
• gnomAD v4: 2-219419221-C-T
• MyVariant Identifiers: chr2:g.220283943C>T (hg19) ; chr2:g.219419221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419221C>T , CM000664.2:g.219419221C>T	GRCh38
NC_000002.11:g.220283943C>T , CM000664.1:g.220283943C>T	GRCh37
NC_000002.10:g.219992187C>T	NCBI36
NG_008043.1:g.5845C>T , LRG_380:g.5845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+181C>T MANE Select	ENSP00000363071.3:n.578+181C>T
ENST00000373960.3:c.578+181C>T	ENSP00000363071.3:n.578+181C>T
NM_001927.3:c.578+181C>T , LRG_380t1:c.578+181C>T	NP_001918.3:n.578+181C>T
NM_001927.4:c.578+181C>T MANE Select	NP_001918.3:n.578+181C>T
NM_001382708.1:c.578+181C>T	NP_001369637.1:n.578+181C>T
NM_001382709.1:c.578+181C>T	NP_001369638.1:n.578+181C>T
NM_001382710.1:c.578+181C>T	NP_001369639.1:n.578+181C>T
NM_001382711.1:c.578+181C>T	NP_001369640.1:n.578+181C>T
NM_001382712.1:c.578+181C>T	NP_001369641.1:n.578+181C>T
NM_001382713.1:c.495+264C>T	NP_001369642.1:n.495+264C>T