Canonical Allele Identifier: CA431284406

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286175T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421453T>C , CM000664.2:g.219421453T>C	GRCh38
NC_000002.11:g.220286175T>C , CM000664.1:g.220286175T>C	GRCh37
NC_000002.10:g.219994419T>C	NCBI36
NG_008043.1:g.8077T>C , LRG_380:g.8077T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.611T>C
ENST00000683013.1:n.525T>C
ENST00000373960.4:c.1137T>C MANE Select	ENSP00000363071.3:p.Asp379=
ENST00000373960.3:c.1137T>C	ENSP00000363071.3:p.Asp379=
ENST00000477226.5:n.609T>C
ENST00000492726.1:n.532T>C
NM_001927.3:c.1137T>C , LRG_380t1:c.1137T>C	NP_001918.3:p.Asp379=
NM_001927.4:c.1137T>C MANE Select	NP_001918.3:p.Asp379=
NM_001382708.1:c.1134T>C	NP_001369637.1:p.Asp378=
NM_001382709.1:c.736-31T>C	NP_001369638.1:n.736-31T>C
NM_001382710.1:c.1068T>C	NP_001369639.1:p.Asp356=
NM_001382711.1:c.1116T>C	NP_001369640.1:p.Asp372=
NM_001382712.1:c.1137T>C	NP_001369641.1:p.Asp379=
NM_001382713.1:c.867T>C	NP_001369642.1:p.Asp289=