Canonical Allele Identifier: CA2693865559

Gene: ALAS2

Linked Data

• gnomAD v4: X-55021000-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021000T>G , CM000685.2:g.55021000T>G	GRCh38
NC_000023.10:g.55047433T>G , CM000685.1:g.55047433T>G	GRCh37
NC_000023.9:g.55064158T>G	NCBI36
NG_008983.1:g.15065A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.422+52A>C	ENSP00000407204.2:n.422+52A>C
ENST00000477869.6:c.311+52A>C	ENSP00000496725.1:n.311+52A>C
ENST00000493869.2:c.305-496A>C	ENSP00000495713.1:n.305-496A>C
ENST00000650242.1:c.638+52A>C MANE Select	ENSP00000497236.1:n.638+52A>C
ENST00000330807.9:c.638+52A>C	ENSP00000332369.5:n.638+52A>C
ENST00000335854.8:c.527+52A>C	ENSP00000337131.4:n.527+52A>C
ENST00000396198.7:c.599+52A>C	ENSP00000379501.3:n.599+52A>C
ENST00000455688.1:c.493+52A>C
ENST00000463868.5:n.356-496A>C
ENST00000477869.5:n.382+52A>C
ENST00000493869.1:n.578+52A>C
NM_000032.4:c.638+52A>C	NP_000023.2:n.638+52A>C
NM_001037967.3:c.527+52A>C	NP_001033056.1:n.527+52A>C
NM_001037968.3:c.599+52A>C	NP_001033057.1:n.599+52A>C
XM_005261995.2:c.710+52A>C	XP_005262052.1:n.710+52A>C
XM_011530771.1:c.-223-496A>C	XP_011529073.1:n.-223-496A>C
NM_000032.5:c.638+52A>C MANE Select	NP_000023.2:n.638+52A>C
NM_001037967.4:c.527+52A>C	NP_001033056.1:n.527+52A>C
NM_001037968.4:c.599+52A>C	NP_001033057.1:n.599+52A>C