Canonical Allele Identifier: CA431284500

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286260C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421538C>T , CM000664.2:g.219421538C>T	GRCh38
NC_000002.11:g.220286260C>T , CM000664.1:g.220286260C>T	GRCh37
NC_000002.10:g.219994504C>T	NCBI36
NG_008043.1:g.8162C>T , LRG_380:g.8162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.696C>T
ENST00000683013.1:n.610C>T
ENST00000373960.4:c.1222C>T MANE Select	ENSP00000363071.3:p.Leu408=
ENST00000373960.3:c.1222C>T	ENSP00000363071.3:p.Leu408=
ENST00000477226.5:n.694C>T
ENST00000492726.1:n.617C>T
NM_001927.3:c.1222C>T , LRG_380t1:c.1222C>T	NP_001918.3:p.Leu408=
NM_001927.4:c.1222C>T MANE Select	NP_001918.3:p.Leu408=
NM_001382708.1:c.1219C>T	NP_001369637.1:p.Leu407=
NM_001382709.1:c.790C>T	NP_001369638.1:p.Leu264=
NM_001382710.1:c.1153C>T	NP_001369639.1:p.Leu385=
NM_001382711.1:c.1201C>T	NP_001369640.1:p.Leu401=
NM_001382712.1:c.1222C>T	NP_001369641.1:p.Leu408=
NM_001382713.1:c.952C>T	NP_001369642.1:p.Leu318=