Canonical Allele Identifier: CA350699104

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290696A>T (hg19) ; chr2:g.219425974A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425974A>T , CM000664.2:g.219425974A>T	GRCh38
NC_000002.11:g.220290696A>T , CM000664.1:g.220290696A>T	GRCh37
NC_000002.10:g.219998940A>T	NCBI36
NG_008043.1:g.12598A>T , LRG_380:g.12598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.871A>T
ENST00000683013.1:n.785A>T
ENST00000373960.4:c.1397A>T MANE Select	ENSP00000363071.3:p.Gln466Leu
ENST00000373960.3:c.1397A>T	ENSP00000363071.3:p.Gln466Leu
ENST00000483395.1:n.252A>T
NM_001927.3:c.1397A>T , LRG_380t1:c.1397A>T	NP_001918.3:p.Gln466Leu
NM_001927.4:c.1397A>T MANE Select	NP_001918.3:p.Gln466Leu
NM_001382708.1:c.1394A>T	NP_001369637.1:p.Gln465Leu
NM_001382709.1:c.965A>T	NP_001369638.1:p.Gln322Leu
NM_001382710.1:c.1328A>T	NP_001369639.1:p.Gln443Leu
NM_001382711.1:c.1376A>T	NP_001369640.1:p.Gln459Leu
NM_001382712.1:c.1371+229A>T	NP_001369641.1:n.1371+229A>T
NM_001382713.1:c.1127A>T	NP_001369642.1:p.Gln376Leu