Canonical Allele Identifier: CA431427640

Gene: DES

Linked Data

• gnomAD v4: 2-219420578-C-T
• MyVariant Identifiers: chr2:g.220285300C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420578C>T , CM000664.2:g.219420578C>T	GRCh38
NC_000002.11:g.220285300C>T , CM000664.1:g.220285300C>T	GRCh37
NC_000002.10:g.219993544C>T	NCBI36
NG_008043.1:g.7202C>T , LRG_380:g.7202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.293C>T
ENST00000683013.1:n.207C>T
ENST00000373960.4:c.819C>T MANE Select	ENSP00000363071.3:p.Ala273=
ENST00000373960.3:c.819C>T	ENSP00000363071.3:p.Ala273=
ENST00000477226.5:n.291C>T
ENST00000492726.1:n.214C>T
NM_001927.3:c.819C>T , LRG_380t1:c.819C>T	NP_001918.3:p.Ala273=
NM_001927.4:c.819C>T MANE Select	NP_001918.3:p.Ala273=
NM_001382708.1:c.816C>T	NP_001369637.1:p.Ala272=
NM_001382709.1:c.735+232C>T	NP_001369638.1:n.735+232C>T
NM_001382710.1:c.819C>T	NP_001369639.1:p.Ala273=
NM_001382711.1:c.819C>T	NP_001369640.1:p.Ala273=
NM_001382712.1:c.819C>T	NP_001369641.1:p.Ala273=
NM_001382713.1:c.549C>T	NP_001369642.1:p.Ala183=