Canonical Allele Identifier: CA350695037

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286259G>T (hg19) ; chr2:g.219421537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421537G>T , CM000664.2:g.219421537G>T	GRCh38
NC_000002.11:g.220286259G>T , CM000664.1:g.220286259G>T	GRCh37
NC_000002.10:g.219994503G>T	NCBI36
NG_008043.1:g.8161G>T , LRG_380:g.8161G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.695G>T
ENST00000683013.1:n.609G>T
ENST00000373960.4:c.1221G>T MANE Select	ENSP00000363071.3:p.Lys407Asn
ENST00000373960.3:c.1221G>T	ENSP00000363071.3:p.Lys407Asn
ENST00000477226.5:n.693G>T
ENST00000492726.1:n.616G>T
NM_001927.3:c.1221G>T , LRG_380t1:c.1221G>T	NP_001918.3:p.Lys407Asn
NM_001927.4:c.1221G>T MANE Select	NP_001918.3:p.Lys407Asn
NM_001382708.1:c.1218G>T	NP_001369637.1:p.Lys406Asn
NM_001382709.1:c.789G>T	NP_001369638.1:p.Lys263Asn
NM_001382710.1:c.1152G>T	NP_001369639.1:p.Lys384Asn
NM_001382711.1:c.1200G>T	NP_001369640.1:p.Lys400Asn
NM_001382712.1:c.1221G>T	NP_001369641.1:p.Lys407Asn
NM_001382713.1:c.951G>T	NP_001369642.1:p.Lys317Asn