Canonical Allele Identifier: CA350698469

Gene: DES

Linked Data

• gnomAD v4: 2-219425691-G-T
• MyVariant Identifiers: chr2:g.220290413G>T (hg19) ; chr2:g.219425691G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425691G>T , CM000664.2:g.219425691G>T	GRCh38
NC_000002.11:g.220290413G>T , CM000664.1:g.220290413G>T	GRCh37
NC_000002.10:g.219998657G>T	NCBI36
NG_008043.1:g.12315G>T , LRG_380:g.12315G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.791G>T
ENST00000683013.1:n.705G>T
ENST00000373960.4:c.1317G>T MANE Select	ENSP00000363071.3:p.Glu439Asp
ENST00000373960.3:c.1317G>T	ENSP00000363071.3:p.Glu439Asp
ENST00000483395.1:n.172G>T
NM_001927.3:c.1317G>T , LRG_380t1:c.1317G>T	NP_001918.3:p.Glu439Asp
NM_001927.4:c.1317G>T MANE Select	NP_001918.3:p.Glu439Asp
NM_001382708.1:c.1314G>T	NP_001369637.1:p.Glu438Asp
NM_001382709.1:c.885G>T	NP_001369638.1:p.Glu295Asp
NM_001382710.1:c.1248G>T	NP_001369639.1:p.Glu416Asp
NM_001382711.1:c.1296G>T	NP_001369640.1:p.Glu432Asp
NM_001382712.1:c.1317G>T	NP_001369641.1:p.Glu439Asp
NM_001382713.1:c.1047G>T	NP_001369642.1:p.Glu349Asp