Canonical Allele Identifier: CA413293312

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55042009A>C (hg19) ; chrX:g.55015576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015576A>C , CM000685.2:g.55015576A>C	GRCh38
NC_000023.10:g.55042009A>C , CM000685.1:g.55042009A>C	GRCh37
NC_000023.9:g.55058734A>C	NCBI36
NG_008983.1:g.20489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1168+2T>G MANE Select	ENSP00000497236.1:n.1168+2T>G
ENST00000330807.9:c.1168+2T>G	ENSP00000332369.5:n.1168+2T>G
ENST00000335854.8:c.1057+2T>G	ENSP00000337131.4:n.1057+2T>G
ENST00000396198.7:c.1129+2T>G	ENSP00000379501.3:n.1129+2T>G
ENST00000498636.1:n.459+2T>G
NM_000032.4:c.1168+2T>G	NP_000023.2:n.1168+2T>G
NM_001037967.3:c.1057+2T>G	NP_001033056.1:n.1057+2T>G
NM_001037968.3:c.1129+2T>G	NP_001033057.1:n.1129+2T>G
XM_005261995.2:c.1240+2T>G	XP_005262052.1:n.1240+2T>G
XM_011530771.1:c.307+2T>G	XP_011529073.1:n.307+2T>G
NM_000032.5:c.1168+2T>G MANE Select	NP_000023.2:n.1168+2T>G
NM_001037967.4:c.1057+2T>G	NP_001033056.1:n.1057+2T>G
NM_001037968.4:c.1129+2T>G	NP_001033057.1:n.1129+2T>G