Canonical Allele Identifier: CA246640

Gene: DES

Linked Data

• ClinVar Variation Id: 198140
• ClinVar RCV Id: RCV000179398
• dbSNP Id: rs794727789
• MyVariant Identifiers: chr2:g.220286205G>T (hg19) ; chr2:g.219421483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421483G>T , CM000664.2:g.219421483G>T	GRCh38
NC_000002.11:g.220286205G>T , CM000664.1:g.220286205G>T	GRCh37
NC_000002.10:g.219994449G>T	NCBI36
NG_008043.1:g.8107G>T , LRG_380:g.8107G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.641G>T
ENST00000683013.1:n.555G>T
ENST00000373960.4:c.1167G>T MANE Select	ENSP00000363071.3:p.Gln389His
ENST00000373960.3:c.1167G>T	ENSP00000363071.3:p.Gln389His
ENST00000477226.5:n.639G>T
ENST00000492726.1:n.562G>T
NM_001927.3:c.1167G>T , LRG_380t1:c.1167G>T	NP_001918.3:p.Gln389His
NM_001927.4:c.1167G>T MANE Select	NP_001918.3:p.Gln389His
NM_001382708.1:c.1164G>T	NP_001369637.1:p.Gln388His
NM_001382709.1:c.736-1G>T	NP_001369638.1:n.736-1G>T
NM_001382710.1:c.1098G>T	NP_001369639.1:p.Gln366His
NM_001382711.1:c.1146G>T	NP_001369640.1:p.Gln382His
NM_001382712.1:c.1167G>T	NP_001369641.1:p.Gln389His
NM_001382713.1:c.897G>T	NP_001369642.1:p.Gln299His