Canonical Allele Identifier: CA350695124

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286279G>T (hg19) ; chr2:g.219421557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421557G>T , CM000664.2:g.219421557G>T	GRCh38
NC_000002.11:g.220286279G>T , CM000664.1:g.220286279G>T	GRCh37
NC_000002.10:g.219994523G>T	NCBI36
NG_008043.1:g.8181G>T , LRG_380:g.8181G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.715G>T
ENST00000683013.1:n.629G>T
ENST00000373960.4:c.1241G>T MANE Select	ENSP00000363071.3:p.Ser414Ile
ENST00000373960.3:c.1241G>T	ENSP00000363071.3:p.Ser414Ile
ENST00000477226.5:n.713G>T
ENST00000492726.1:n.636G>T
NM_001927.3:c.1241G>T , LRG_380t1:c.1241G>T	NP_001918.3:p.Ser414Ile
NM_001927.4:c.1241G>T MANE Select	NP_001918.3:p.Ser414Ile
NM_001382708.1:c.1238G>T	NP_001369637.1:p.Ser413Ile
NM_001382709.1:c.809G>T	NP_001369638.1:p.Ser270Ile
NM_001382710.1:c.1172G>T	NP_001369639.1:p.Ser391Ile
NM_001382711.1:c.1220G>T	NP_001369640.1:p.Ser407Ile
NM_001382712.1:c.1241G>T	NP_001369641.1:p.Ser414Ile
NM_001382713.1:c.971G>T	NP_001369642.1:p.Ser324Ile