Canonical Allele Identifier: CA413293456

Gene: ALAS2

Linked Data

• COSMIC: COSM6018528 ; COSM6018529 ; COSM6018530
• MyVariant Identifiers: chrX:g.55042055C>G (hg19) ; chrX:g.55015622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015622C>G , CM000685.2:g.55015622C>G	GRCh38
NC_000023.10:g.55042055C>G , CM000685.1:g.55042055C>G	GRCh37
NC_000023.9:g.55058780C>G	NCBI36
NG_008983.1:g.20443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1124G>C MANE Select	ENSP00000497236.1:p.Arg375Pro
ENST00000330807.9:c.1124G>C	ENSP00000332369.5:p.Arg375Pro
ENST00000335854.8:c.1013G>C	ENSP00000337131.4:p.Arg338Pro
ENST00000396198.7:c.1085G>C	ENSP00000379501.3:p.Arg362Pro
ENST00000498636.1:n.415G>C
NM_000032.4:c.1124G>C	NP_000023.2:p.Arg375Pro
NM_001037967.3:c.1013G>C	NP_001033056.1:p.Arg338Pro
NM_001037968.3:c.1085G>C	NP_001033057.1:p.Arg362Pro
XM_005261995.2:c.1196G>C	XP_005262052.1:p.Arg399Pro
XM_011530771.1:c.263G>C	XP_011529073.1:p.Arg88Pro
NM_000032.5:c.1124G>C MANE Select	NP_000023.2:p.Arg375Pro
NM_001037967.4:c.1013G>C	NP_001033056.1:p.Arg338Pro
NM_001037968.4:c.1085G>C	NP_001033057.1:p.Arg362Pro