Canonical Allele Identifier: CA217087

Gene: DES

Linked Data

• ClinVar Variation Id: 66421
• ClinVar RCV Id: RCV000056812
• dbSNP Id: rs267607494
• MyVariant Identifiers: chr2:g.220285302T>C (hg19) ; chr2:g.219420580T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420580T>C , CM000664.2:g.219420580T>C	GRCh38
NC_000002.11:g.220285302T>C , CM000664.1:g.220285302T>C	GRCh37
NC_000002.10:g.219993546T>C	NCBI36
NG_008043.1:g.7204T>C , LRG_380:g.7204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.295T>C
ENST00000683013.1:n.209T>C
ENST00000373960.4:c.821T>C MANE Select	ENSP00000363071.3:p.Leu274Pro
ENST00000373960.3:c.821T>C	ENSP00000363071.3:p.Leu274Pro
ENST00000477226.5:n.293T>C
ENST00000492726.1:n.216T>C
NM_001927.3:c.821T>C , LRG_380t1:c.821T>C	NP_001918.3:p.Leu274Pro
NM_001927.4:c.821T>C MANE Select	NP_001918.3:p.Leu274Pro
NM_001382708.1:c.818T>C	NP_001369637.1:p.Leu273Pro
NM_001382709.1:c.735+234T>C	NP_001369638.1:n.735+234T>C
NM_001382710.1:c.821T>C	NP_001369639.1:p.Leu274Pro
NM_001382711.1:c.821T>C	NP_001369640.1:p.Leu274Pro
NM_001382712.1:c.821T>C	NP_001369641.1:p.Leu274Pro
NM_001382713.1:c.551T>C	NP_001369642.1:p.Leu184Pro