Canonical Allele Identifier: CA2125246

Gene: DES

Linked Data

• dbSNP Id: rs769260641
• ExAC: 2:220286166 C / T
• gnomAD v2: 2-220286166-C-T
• MyVariant Identifiers: chr2:g.220286166C>T (hg19) ; chr2:g.219421444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421444C>T , CM000664.2:g.219421444C>T	GRCh38
NC_000002.11:g.220286166C>T , CM000664.1:g.220286166C>T	GRCh37
NC_000002.10:g.219994410C>T	NCBI36
NG_008043.1:g.8068C>T , LRG_380:g.8068C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.602C>T
ENST00000683013.1:n.516C>T
ENST00000373960.4:c.1128C>T MANE Select	ENSP00000363071.3:p.His376=
ENST00000373960.3:c.1128C>T	ENSP00000363071.3:p.His376=
ENST00000477226.5:n.600C>T
ENST00000492726.1:n.523C>T
NM_001927.3:c.1128C>T , LRG_380t1:c.1128C>T	NP_001918.3:p.His376=
NM_001927.4:c.1128C>T MANE Select	NP_001918.3:p.His376=
NM_001382708.1:c.1125C>T	NP_001369637.1:p.His375=
NM_001382709.1:c.736-40C>T	NP_001369638.1:n.736-40C>T
NM_001382710.1:c.1059C>T	NP_001369639.1:p.His353=
NM_001382711.1:c.1107C>T	NP_001369640.1:p.His369=
NM_001382712.1:c.1128C>T	NP_001369641.1:p.His376=
NM_001382713.1:c.858C>T	NP_001369642.1:p.His286=