Canonical Allele Identifier: CA764964830

Gene: DES

Linked Data

• dbSNP Id: rs1342322314
• gnomAD v4: 2-219419186-T-C
• MyVariant Identifiers: chr2:g.220283908T>C (hg19) ; chr2:g.219419186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419186T>C , CM000664.2:g.219419186T>C	GRCh38
NC_000002.11:g.220283908T>C , CM000664.1:g.220283908T>C	GRCh37
NC_000002.10:g.219992152T>C	NCBI36
NG_008043.1:g.5810T>C , LRG_380:g.5810T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+146T>C MANE Select	ENSP00000363071.3:n.578+146T>C
ENST00000373960.3:c.578+146T>C	ENSP00000363071.3:n.578+146T>C
NM_001927.3:c.578+146T>C , LRG_380t1:c.578+146T>C	NP_001918.3:n.578+146T>C
NM_001927.4:c.578+146T>C MANE Select	NP_001918.3:n.578+146T>C
NM_001382708.1:c.578+146T>C	NP_001369637.1:n.578+146T>C
NM_001382709.1:c.578+146T>C	NP_001369638.1:n.578+146T>C
NM_001382710.1:c.578+146T>C	NP_001369639.1:n.578+146T>C
NM_001382711.1:c.578+146T>C	NP_001369640.1:n.578+146T>C
NM_001382712.1:c.578+146T>C	NP_001369641.1:n.578+146T>C
NM_001382713.1:c.495+229T>C	NP_001369642.1:n.495+229T>C