Canonical Allele Identifier: CA413295454

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047532A>C (hg19) ; chrX:g.55021099A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021099A>C , CM000685.2:g.55021099A>C	GRCh38
NC_000023.10:g.55047532A>C , CM000685.1:g.55047532A>C	GRCh37
NC_000023.9:g.55064257A>C	NCBI36
NG_008983.1:g.14966T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.375T>G	ENSP00000407204.2:p.Asn125Lys
ENST00000477869.6:c.264T>G	ENSP00000496725.1:p.Asn88Lys
ENST00000493869.2:c.305-595T>G	ENSP00000495713.1:n.305-595T>G
ENST00000650242.1:c.591T>G MANE Select	ENSP00000497236.1:p.Asn197Lys
ENST00000330807.9:c.591T>G	ENSP00000332369.5:p.Asn197Lys
ENST00000335854.8:c.480T>G	ENSP00000337131.4:p.Asn160Lys
ENST00000396198.7:c.552T>G	ENSP00000379501.3:p.Asn184Lys
ENST00000455688.1:c.446T>G
ENST00000463868.5:n.356-595T>G
ENST00000477869.5:n.335T>G
ENST00000493869.1:n.531T>G
NM_000032.4:c.591T>G	NP_000023.2:p.Asn197Lys
NM_001037967.3:c.480T>G	NP_001033056.1:p.Asn160Lys
NM_001037968.3:c.552T>G	NP_001033057.1:p.Asn184Lys
XM_005261995.2:c.663T>G	XP_005262052.1:p.Asn221Lys
XM_011530771.1:c.-223-595T>G	XP_011529073.1:n.-223-595T>G
NM_000032.5:c.591T>G MANE Select	NP_000023.2:p.Asn197Lys
NM_001037967.4:c.480T>G	NP_001033056.1:p.Asn160Lys
NM_001037968.4:c.552T>G	NP_001033057.1:p.Asn184Lys