Canonical Allele Identifier: CA413293310

Gene: ALAS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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