Canonical Allele Identifier: CA350694102

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286126A>C (hg19) ; chr2:g.219421404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421404A>C , CM000664.2:g.219421404A>C	GRCh38
NC_000002.11:g.220286126A>C , CM000664.1:g.220286126A>C	GRCh37
NC_000002.10:g.219994370A>C	NCBI36
NG_008043.1:g.8028A>C , LRG_380:g.8028A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.562A>C
ENST00000683013.1:n.476A>C
ENST00000373960.4:c.1088A>C MANE Select	ENSP00000363071.3:p.Tyr363Ser
ENST00000373960.3:c.1088A>C	ENSP00000363071.3:p.Tyr363Ser
ENST00000477226.5:n.560A>C
ENST00000492726.1:n.483A>C
NM_001927.3:c.1088A>C , LRG_380t1:c.1088A>C	NP_001918.3:p.Tyr363Ser
NM_001927.4:c.1088A>C MANE Select	NP_001918.3:p.Tyr363Ser
NM_001382708.1:c.1085A>C	NP_001369637.1:p.Tyr362Ser
NM_001382709.1:c.736-80A>C	NP_001369638.1:n.736-80A>C
NM_001382710.1:c.1024-5A>C	NP_001369639.1:n.1024-5A>C
NM_001382711.1:c.1067A>C	NP_001369640.1:p.Tyr356Ser
NM_001382712.1:c.1088A>C	NP_001369641.1:p.Tyr363Ser
NM_001382713.1:c.818A>C	NP_001369642.1:p.Tyr273Ser