Canonical Allele Identifier: CA431285590

Gene: DES

Linked Data

• gnomAD v4: 2-219425712-G-T
• MyVariant Identifiers: chr2:g.220290434G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425712G>T , CM000664.2:g.219425712G>T	GRCh38
NC_000002.11:g.220290434G>T , CM000664.1:g.220290434G>T	GRCh37
NC_000002.10:g.219998678G>T	NCBI36
NG_008043.1:g.12336G>T , LRG_380:g.12336G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.812G>T
ENST00000683013.1:n.726G>T
ENST00000373960.4:c.1338G>T MANE Select	ENSP00000363071.3:p.Val446=
ENST00000373960.3:c.1338G>T	ENSP00000363071.3:p.Val446=
ENST00000483395.1:n.193G>T
NM_001927.3:c.1338G>T , LRG_380t1:c.1338G>T	NP_001918.3:p.Val446=
NM_001927.4:c.1338G>T MANE Select	NP_001918.3:p.Val446=
NM_001382708.1:c.1335G>T	NP_001369637.1:p.Val445=
NM_001382709.1:c.906G>T	NP_001369638.1:p.Val302=
NM_001382710.1:c.1269G>T	NP_001369639.1:p.Val423=
NM_001382711.1:c.1317G>T	NP_001369640.1:p.Val439=
NM_001382712.1:c.1338G>T	NP_001369641.1:p.Val446=
NM_001382713.1:c.1068G>T	NP_001369642.1:p.Val356=