Canonical Allele Identifier: CA413295452

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047531C>G (hg19) ; chrX:g.55021098C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021098C>G , CM000685.2:g.55021098C>G	GRCh38
NC_000023.10:g.55047531C>G , CM000685.1:g.55047531C>G	GRCh37
NC_000023.9:g.55064256C>G	NCBI36
NG_008983.1:g.14967G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.376G>C	ENSP00000407204.2:p.Asp126His
ENST00000477869.6:c.265G>C	ENSP00000496725.1:p.Asp89His
ENST00000493869.2:c.305-594G>C	ENSP00000495713.1:n.305-594G>C
ENST00000650242.1:c.592G>C MANE Select	ENSP00000497236.1:p.Asp198His
ENST00000330807.9:c.592G>C	ENSP00000332369.5:p.Asp198His
ENST00000335854.8:c.481G>C	ENSP00000337131.4:p.Asp161His
ENST00000396198.7:c.553G>C	ENSP00000379501.3:p.Asp185His
ENST00000455688.1:c.447G>C
ENST00000463868.5:n.356-594G>C
ENST00000477869.5:n.336G>C
ENST00000493869.1:n.532G>C
NM_000032.4:c.592G>C	NP_000023.2:p.Asp198His
NM_001037967.3:c.481G>C	NP_001033056.1:p.Asp161His
NM_001037968.3:c.553G>C	NP_001033057.1:p.Asp185His
XM_005261995.2:c.664G>C	XP_005262052.1:p.Asp222His
XM_011530771.1:c.-223-594G>C	XP_011529073.1:n.-223-594G>C
NM_000032.5:c.592G>C MANE Select	NP_000023.2:p.Asp198His
NM_001037967.4:c.481G>C	NP_001033056.1:p.Asp161His
NM_001037968.4:c.553G>C	NP_001033057.1:p.Asp185His