Canonical Allele Identifier: CA350698659

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290441A>T (hg19) ; chr2:g.219425719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425719A>T , CM000664.2:g.219425719A>T	GRCh38
NC_000002.11:g.220290441A>T , CM000664.1:g.220290441A>T	GRCh37
NC_000002.10:g.219998685A>T	NCBI36
NG_008043.1:g.12343A>T , LRG_380:g.12343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.819A>T
ENST00000683013.1:n.733A>T
ENST00000373960.4:c.1345A>T MANE Select	ENSP00000363071.3:p.Lys449Ter
ENST00000373960.3:c.1345A>T	ENSP00000363071.3:p.Lys449Ter
ENST00000483395.1:n.200A>T
NM_001927.3:c.1345A>T , LRG_380t1:c.1345A>T	NP_001918.3:p.Lys449Ter
NM_001927.4:c.1345A>T MANE Select	NP_001918.3:p.Lys449Ter
NM_001382708.1:c.1342A>T	NP_001369637.1:p.Lys448Ter
NM_001382709.1:c.913A>T	NP_001369638.1:p.Lys305Ter
NM_001382710.1:c.1276A>T	NP_001369639.1:p.Lys426Ter
NM_001382711.1:c.1324A>T	NP_001369640.1:p.Lys442Ter
NM_001382712.1:c.1345A>T	NP_001369641.1:p.Lys449Ter
NM_001382713.1:c.1075A>T	NP_001369642.1:p.Lys359Ter