Canonical Allele Identifier: CA413293340

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55042024G>C (hg19) ; chrX:g.55015591G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015591G>C , CM000685.2:g.55015591G>C	GRCh38
NC_000023.10:g.55042024G>C , CM000685.1:g.55042024G>C	GRCh37
NC_000023.9:g.55058749G>C	NCBI36
NG_008983.1:g.20474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1155C>G MANE Select	ENSP00000497236.1:p.Ile385Met
ENST00000330807.9:c.1155C>G	ENSP00000332369.5:p.Ile385Met
ENST00000335854.8:c.1044C>G	ENSP00000337131.4:p.Ile348Met
ENST00000396198.7:c.1116C>G	ENSP00000379501.3:p.Ile372Met
ENST00000498636.1:n.446C>G
NM_000032.4:c.1155C>G	NP_000023.2:p.Ile385Met
NM_001037967.3:c.1044C>G	NP_001033056.1:p.Ile348Met
NM_001037968.3:c.1116C>G	NP_001033057.1:p.Ile372Met
XM_005261995.2:c.1227C>G	XP_005262052.1:p.Ile409Met
XM_011530771.1:c.294C>G	XP_011529073.1:p.Ile98Met
NM_000032.5:c.1155C>G MANE Select	NP_000023.2:p.Ile385Met
NM_001037967.4:c.1044C>G	NP_001033056.1:p.Ile348Met
NM_001037968.4:c.1116C>G	NP_001033057.1:p.Ile372Met