Canonical Allele Identifier: CA413296391

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55024716A>T , CM000685.2:g.55024716A>T	GRCh38
NC_000023.10:g.55051149A>T , CM000685.1:g.55051149A>T	GRCh37
NC_000023.9:g.55067874A>T	NCBI36
NG_008983.1:g.11349T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.304+2T>A MANE Select	NP_000023.2:n.304+2T>A
ENST00000650242.1:c.304+2T>A MANE Select	ENSP00000497236.1:n.304+2T>A
NM_000032.4:c.304+2T>A	NP_000023.2:n.304+2T>A
NM_001037967.3:c.304+2T>A	NP_001033056.1:n.304+2T>A
NM_001037967.4:c.304+2T>A	NP_001033056.1:n.304+2T>A
NM_001037968.3:c.376+2T>A	NP_001033057.1:n.376+2T>A
NM_001037968.4:c.376+2T>A	NP_001033057.1:n.376+2T>A
ENST00000330807.9:c.304+2T>A	ENSP00000332369.5:n.304+2T>A
ENST00000335854.8:c.304+2T>A	ENSP00000337131.4:n.304+2T>A
ENST00000396198.7:c.376+2T>A	ENSP00000379501.3:n.376+2T>A
ENST00000455688.1:c.159+2T>A
ENST00000455688.2:c.88+2T>A	ENSP00000407204.2:n.88+2T>A
ENST00000463868.5:n.355+2T>A
ENST00000477869.5:n.159+2T>A
ENST00000477869.6:c.88+2T>A	ENSP00000496725.1:n.88+2T>A
ENST00000493869.1:n.355+2T>A
ENST00000493869.2:c.304+2T>A	ENSP00000495713.1:n.304+2T>A
ENST00000644983.1:c.376+2T>A	ENSP00000495814.1:n.376+2T>A
XM_005261995.2:c.376+2T>A	XP_005262052.1:n.376+2T>A
XM_011530771.1:c.-224+2T>A	XP_011529073.1:n.-224+2T>A