Canonical Allele Identifier: CA350694218

Gene: DES

Linked Data

• ClinVar Variation Id: 497856
• ClinVar RCV Id: RCV000595412 ; RCV000796751
• dbSNP Id: rs1480755998
• gnomAD v4: 2-219421416-T-C
• MyVariant Identifiers: chr2:g.220286138T>C (hg19) ; chr2:g.219421416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421416T>C , CM000664.2:g.219421416T>C	GRCh38
NC_000002.11:g.220286138T>C , CM000664.1:g.220286138T>C	GRCh37
NC_000002.10:g.219994382T>C	NCBI36
NG_008043.1:g.8040T>C , LRG_380:g.8040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.574T>C
ENST00000683013.1:n.488T>C
ENST00000373960.4:c.1100T>C MANE Select	ENSP00000363071.3:p.Ile367Thr
ENST00000373960.3:c.1100T>C	ENSP00000363071.3:p.Ile367Thr
ENST00000477226.5:n.572T>C
ENST00000492726.1:n.495T>C
NM_001927.3:c.1100T>C , LRG_380t1:c.1100T>C	NP_001918.3:p.Ile367Thr
NM_001927.4:c.1100T>C MANE Select	NP_001918.3:p.Ile367Thr
NM_001382708.1:c.1097T>C	NP_001369637.1:p.Ile366Thr
NM_001382709.1:c.736-68T>C	NP_001369638.1:n.736-68T>C
NM_001382710.1:c.1031T>C	NP_001369639.1:p.Ile344Thr
NM_001382711.1:c.1079T>C	NP_001369640.1:p.Ile360Thr
NM_001382712.1:c.1100T>C	NP_001369641.1:p.Ile367Thr
NM_001382713.1:c.830T>C	NP_001369642.1:p.Ile277Thr