Canonical Allele Identifier: CA431284188

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286073G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421351G>T , CM000664.2:g.219421351G>T	GRCh38
NC_000002.11:g.220286073G>T , CM000664.1:g.220286073G>T	GRCh37
NC_000002.10:g.219994317G>T	NCBI36
NG_008043.1:g.7975G>T , LRG_380:g.7975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.509G>T
ENST00000683013.1:n.423G>T
ENST00000373960.4:c.1035G>T MANE Select	ENSP00000363071.3:p.Leu345=
ENST00000373960.3:c.1035G>T	ENSP00000363071.3:p.Leu345=
ENST00000477226.5:n.507G>T
ENST00000492726.1:n.430G>T
NM_001927.3:c.1035G>T , LRG_380t1:c.1035G>T	NP_001918.3:p.Leu345=
NM_001927.4:c.1035G>T MANE Select	NP_001918.3:p.Leu345=
NM_001382708.1:c.1032G>T	NP_001369637.1:p.Leu344=
NM_001382709.1:c.736-133G>T	NP_001369638.1:n.736-133G>T
NM_001382710.1:c.1024-58G>T	NP_001369639.1:n.1024-58G>T
NM_001382711.1:c.1024-10G>T	NP_001369640.1:n.1024-10G>T
NM_001382712.1:c.1035G>T	NP_001369641.1:p.Leu345=
NM_001382713.1:c.765G>T	NP_001369642.1:p.Leu255=