Canonical Allele Identifier: CA413295448

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047530T>A (hg19) ; chrX:g.55021097T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021097T>A , CM000685.2:g.55021097T>A	GRCh38
NC_000023.10:g.55047530T>A , CM000685.1:g.55047530T>A	GRCh37
NC_000023.9:g.55064255T>A	NCBI36
NG_008983.1:g.14968A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.377A>T	ENSP00000407204.2:p.Asp126Val
ENST00000477869.6:c.266A>T	ENSP00000496725.1:p.Asp89Val
ENST00000493869.2:c.305-593A>T	ENSP00000495713.1:n.305-593A>T
ENST00000650242.1:c.593A>T MANE Select	ENSP00000497236.1:p.Asp198Val
ENST00000330807.9:c.593A>T	ENSP00000332369.5:p.Asp198Val
ENST00000335854.8:c.482A>T	ENSP00000337131.4:p.Asp161Val
ENST00000396198.7:c.554A>T	ENSP00000379501.3:p.Asp185Val
ENST00000455688.1:c.448A>T
ENST00000463868.5:n.356-593A>T
ENST00000477869.5:n.337A>T
ENST00000493869.1:n.533A>T
NM_000032.4:c.593A>T	NP_000023.2:p.Asp198Val
NM_001037967.3:c.482A>T	NP_001033056.1:p.Asp161Val
NM_001037968.3:c.554A>T	NP_001033057.1:p.Asp185Val
XM_005261995.2:c.665A>T	XP_005262052.1:p.Asp222Val
XM_011530771.1:c.-223-593A>T	XP_011529073.1:n.-223-593A>T
NM_000032.5:c.593A>T MANE Select	NP_000023.2:p.Asp198Val
NM_001037967.4:c.482A>T	NP_001033056.1:p.Asp161Val
NM_001037968.4:c.554A>T	NP_001033057.1:p.Asp185Val