Canonical Allele Identifier: CA431284466

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286211G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421489G>C , CM000664.2:g.219421489G>C	GRCh38
NC_000002.11:g.220286211G>C , CM000664.1:g.220286211G>C	GRCh37
NC_000002.10:g.219994455G>C	NCBI36
NG_008043.1:g.8113G>C , LRG_380:g.8113G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.647G>C
ENST00000683013.1:n.561G>C
ENST00000373960.4:c.1173G>C MANE Select	ENSP00000363071.3:p.Leu391=
ENST00000373960.3:c.1173G>C	ENSP00000363071.3:p.Leu391=
ENST00000477226.5:n.645G>C
ENST00000492726.1:n.568G>C
NM_001927.3:c.1173G>C , LRG_380t1:c.1173G>C	NP_001918.3:p.Leu391=
NM_001927.4:c.1173G>C MANE Select	NP_001918.3:p.Leu391=
NM_001382708.1:c.1170G>C	NP_001369637.1:p.Leu390=
NM_001382709.1:c.741G>C	NP_001369638.1:p.Leu247=
NM_001382710.1:c.1104G>C	NP_001369639.1:p.Leu368=
NM_001382711.1:c.1152G>C	NP_001369640.1:p.Leu384=
NM_001382712.1:c.1173G>C	NP_001369641.1:p.Leu391=
NM_001382713.1:c.903G>C	NP_001369642.1:p.Leu301=