Canonical Allele Identifier: CA350694180

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286134A>T (hg19) ; chr2:g.219421412A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421412A>T , CM000664.2:g.219421412A>T	GRCh38
NC_000002.11:g.220286134A>T , CM000664.1:g.220286134A>T	GRCh37
NC_000002.10:g.219994378A>T	NCBI36
NG_008043.1:g.8036A>T , LRG_380:g.8036A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.570A>T
ENST00000683013.1:n.484A>T
ENST00000373960.4:c.1096A>T MANE Select	ENSP00000363071.3:p.Asn366Tyr
ENST00000373960.3:c.1096A>T	ENSP00000363071.3:p.Asn366Tyr
ENST00000477226.5:n.568A>T
ENST00000492726.1:n.491A>T
NM_001927.3:c.1096A>T , LRG_380t1:c.1096A>T	NP_001918.3:p.Asn366Tyr
NM_001927.4:c.1096A>T MANE Select	NP_001918.3:p.Asn366Tyr
NM_001382708.1:c.1093A>T	NP_001369637.1:p.Asn365Tyr
NM_001382709.1:c.736-72A>T	NP_001369638.1:n.736-72A>T
NM_001382710.1:c.1027A>T	NP_001369639.1:p.Asn343Tyr
NM_001382711.1:c.1075A>T	NP_001369640.1:p.Asn359Tyr
NM_001382712.1:c.1096A>T	NP_001369641.1:p.Asn366Tyr
NM_001382713.1:c.826A>T	NP_001369642.1:p.Asn276Tyr