Canonical Allele Identifier: CA431285658

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290709C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425987C>T , CM000664.2:g.219425987C>T	GRCh38
NC_000002.11:g.220290709C>T , CM000664.1:g.220290709C>T	GRCh37
NC_000002.10:g.219998953C>T	NCBI36
NG_008043.1:g.12611C>T , LRG_380:g.12611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.884C>T
ENST00000683013.1:n.798C>T
ENST00000373960.4:c.1410C>T MANE Select	ENSP00000363071.3:p.Leu470=
ENST00000373960.3:c.1410C>T	ENSP00000363071.3:p.Leu470=
ENST00000483395.1:n.265C>T
NM_001927.3:c.1410C>T , LRG_380t1:c.1410C>T	NP_001918.3:p.Leu470=
NM_001927.4:c.1410C>T MANE Select	NP_001918.3:p.Leu470=
NM_001382708.1:c.1407C>T	NP_001369637.1:p.Leu469=
NM_001382709.1:c.978C>T	NP_001369638.1:p.Leu326=
NM_001382710.1:c.1341C>T	NP_001369639.1:p.Leu447=
NM_001382711.1:c.1389C>T	NP_001369640.1:p.Leu463=
NM_001382712.1:c.1371+242C>T	NP_001369641.1:n.1371+242C>T
NM_001382713.1:c.1140C>T	NP_001369642.1:p.Leu380=