Canonical Allele Identifier: CA350699152

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290700T>G (hg19) ; chr2:g.219425978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425978T>G , CM000664.2:g.219425978T>G	GRCh38
NC_000002.11:g.220290700T>G , CM000664.1:g.220290700T>G	GRCh37
NC_000002.10:g.219998944T>G	NCBI36
NG_008043.1:g.12602T>G , LRG_380:g.12602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.875T>G
ENST00000683013.1:n.789T>G
ENST00000373960.4:c.1401T>G MANE Select	ENSP00000363071.3:p.His467Gln
ENST00000373960.3:c.1401T>G	ENSP00000363071.3:p.His467Gln
ENST00000483395.1:n.256T>G
NM_001927.3:c.1401T>G , LRG_380t1:c.1401T>G	NP_001918.3:p.His467Gln
NM_001927.4:c.1401T>G MANE Select	NP_001918.3:p.His467Gln
NM_001382708.1:c.1398T>G	NP_001369637.1:p.His466Gln
NM_001382709.1:c.969T>G	NP_001369638.1:p.His323Gln
NM_001382710.1:c.1332T>G	NP_001369639.1:p.His444Gln
NM_001382711.1:c.1380T>G	NP_001369640.1:p.His460Gln
NM_001382712.1:c.1371+233T>G	NP_001369641.1:n.1371+233T>G
NM_001382713.1:c.1131T>G	NP_001369642.1:p.His377Gln