Canonical Allele Identifier: CA431427628

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220285294T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420572T>C , CM000664.2:g.219420572T>C	GRCh38
NC_000002.11:g.220285294T>C , CM000664.1:g.220285294T>C	GRCh37
NC_000002.10:g.219993538T>C	NCBI36
NG_008043.1:g.7196T>C , LRG_380:g.7196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.287T>C
ENST00000683013.1:n.201T>C
ENST00000373960.4:c.813T>C MANE Select	ENSP00000363071.3:p.Thr271=
ENST00000373960.3:c.813T>C	ENSP00000363071.3:p.Thr271=
ENST00000477226.5:n.285T>C
ENST00000492726.1:n.208T>C
NM_001927.3:c.813T>C , LRG_380t1:c.813T>C	NP_001918.3:p.Thr271=
NM_001927.4:c.813T>C MANE Select	NP_001918.3:p.Thr271=
NM_001382708.1:c.810T>C	NP_001369637.1:p.Thr270=
NM_001382709.1:c.735+226T>C	NP_001369638.1:n.735+226T>C
NM_001382710.1:c.813T>C	NP_001369639.1:p.Thr271=
NM_001382711.1:c.813T>C	NP_001369640.1:p.Thr271=
NM_001382712.1:c.813T>C	NP_001369641.1:p.Thr271=
NM_001382713.1:c.543T>C	NP_001369642.1:p.Thr181=