Canonical Allele Identifier: CA350691270

Gene: DES

Linked Data

• gnomAD v4: 2-219420574-C-A
• MyVariant Identifiers: chr2:g.220285296C>A (hg19) ; chr2:g.219420574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420574C>A , CM000664.2:g.219420574C>A	GRCh38
NC_000002.11:g.220285296C>A , CM000664.1:g.220285296C>A	GRCh37
NC_000002.10:g.219993540C>A	NCBI36
NG_008043.1:g.7198C>A , LRG_380:g.7198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.289C>A
ENST00000683013.1:n.203C>A
ENST00000373960.4:c.815C>A MANE Select	ENSP00000363071.3:p.Ala272Asp
ENST00000373960.3:c.815C>A	ENSP00000363071.3:p.Ala272Asp
ENST00000477226.5:n.287C>A
ENST00000492726.1:n.210C>A
NM_001927.3:c.815C>A , LRG_380t1:c.815C>A	NP_001918.3:p.Ala272Asp
NM_001927.4:c.815C>A MANE Select	NP_001918.3:p.Ala272Asp
NM_001382708.1:c.812C>A	NP_001369637.1:p.Ala271Asp
NM_001382709.1:c.735+228C>A	NP_001369638.1:n.735+228C>A
NM_001382710.1:c.815C>A	NP_001369639.1:p.Ala272Asp
NM_001382711.1:c.815C>A	NP_001369640.1:p.Ala272Asp
NM_001382712.1:c.815C>A	NP_001369641.1:p.Ala272Asp
NM_001382713.1:c.545C>A	NP_001369642.1:p.Ala182Asp