Canonical Allele Identifier: CA350694440

Gene: DES

Linked Data

• ClinVar Variation Id: 1471108
• ClinVar RCV Id: RCV001975552
• dbSNP Id: rs1432061016
• gnomAD v2: 2-220286168-T-C
• gnomAD v4: 2-219421446-T-C
• MyVariant Identifiers: chr2:g.220286168T>C (hg19) ; chr2:g.219421446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421446T>C , CM000664.2:g.219421446T>C	GRCh38
NC_000002.11:g.220286168T>C , CM000664.1:g.220286168T>C	GRCh37
NC_000002.10:g.219994412T>C	NCBI36
NG_008043.1:g.8070T>C , LRG_380:g.8070T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.604T>C
ENST00000683013.1:n.518T>C
ENST00000373960.4:c.1130T>C MANE Select	ENSP00000363071.3:p.Leu377Pro
ENST00000373960.3:c.1130T>C	ENSP00000363071.3:p.Leu377Pro
ENST00000477226.5:n.602T>C
ENST00000492726.1:n.525T>C
NM_001927.3:c.1130T>C , LRG_380t1:c.1130T>C	NP_001918.3:p.Leu377Pro
NM_001927.4:c.1130T>C MANE Select	NP_001918.3:p.Leu377Pro
NM_001382708.1:c.1127T>C	NP_001369637.1:p.Leu376Pro
NM_001382709.1:c.736-38T>C	NP_001369638.1:n.736-38T>C
NM_001382710.1:c.1061T>C	NP_001369639.1:p.Leu354Pro
NM_001382711.1:c.1109T>C	NP_001369640.1:p.Leu370Pro
NM_001382712.1:c.1130T>C	NP_001369641.1:p.Leu377Pro
NM_001382713.1:c.860T>C	NP_001369642.1:p.Leu287Pro