Canonical Allele Identifier: CA413294420

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55044007A>C (hg19) ; chrX:g.55017574A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017574A>C , CM000685.2:g.55017574A>C	GRCh38
NC_000023.10:g.55044007A>C , CM000685.1:g.55044007A>C	GRCh37
NC_000023.9:g.55060732A>C	NCBI36
NG_008983.1:g.18491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.915T>G MANE Select	ENSP00000497236.1:p.Asn305Lys
ENST00000330807.9:c.915T>G	ENSP00000332369.5:p.Asn305Lys
ENST00000335854.8:c.804T>G	ENSP00000337131.4:p.Asn268Lys
ENST00000396198.7:c.876T>G	ENSP00000379501.3:p.Asn292Lys
ENST00000463868.5:n.632T>G
ENST00000498636.1:n.206T>G
NM_000032.4:c.915T>G	NP_000023.2:p.Asn305Lys
NM_001037967.3:c.804T>G	NP_001033056.1:p.Asn268Lys
NM_001037968.3:c.876T>G	NP_001033057.1:p.Asn292Lys
XM_005261995.2:c.987T>G	XP_005262052.1:p.Asn329Lys
XM_011530771.1:c.54T>G	XP_011529073.1:p.Asn18Lys
NM_000032.5:c.915T>G MANE Select	NP_000023.2:p.Asn305Lys
NM_001037967.4:c.804T>G	NP_001033056.1:p.Asn268Lys
NM_001037968.4:c.876T>G	NP_001033057.1:p.Asn292Lys