Canonical Allele Identifier: CA431285648

Gene: DES

Linked Data

• ClinVar Variation Id: 1771826
• ClinVar RCV Id: RCV002389303
• gnomAD v4: 2-219425978-T-C
• MyVariant Identifiers: chr2:g.220290700T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425978T>C , CM000664.2:g.219425978T>C	GRCh38
NC_000002.11:g.220290700T>C , CM000664.1:g.220290700T>C	GRCh37
NC_000002.10:g.219998944T>C	NCBI36
NG_008043.1:g.12602T>C , LRG_380:g.12602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.875T>C
ENST00000683013.1:n.789T>C
ENST00000373960.4:c.1401T>C MANE Select	ENSP00000363071.3:p.His467=
ENST00000373960.3:c.1401T>C	ENSP00000363071.3:p.His467=
ENST00000483395.1:n.256T>C
NM_001927.3:c.1401T>C , LRG_380t1:c.1401T>C	NP_001918.3:p.His467=
NM_001927.4:c.1401T>C MANE Select	NP_001918.3:p.His467=
NM_001382708.1:c.1398T>C	NP_001369637.1:p.His466=
NM_001382709.1:c.969T>C	NP_001369638.1:p.His323=
NM_001382710.1:c.1332T>C	NP_001369639.1:p.His444=
NM_001382711.1:c.1380T>C	NP_001369640.1:p.His460=
NM_001382712.1:c.1371+233T>C	NP_001369641.1:n.1371+233T>C
NM_001382713.1:c.1131T>C	NP_001369642.1:p.His377=