Canonical Allele Identifier: CA413294562

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55044047A>G (hg19) ; chrX:g.55017614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017614A>G , CM000685.2:g.55017614A>G	GRCh38
NC_000023.10:g.55044047A>G , CM000685.1:g.55044047A>G	GRCh37
NC_000023.9:g.55060772A>G	NCBI36
NG_008983.1:g.18451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.875T>C MANE Select	ENSP00000497236.1:p.Ile292Thr
ENST00000330807.9:c.875T>C	ENSP00000332369.5:p.Ile292Thr
ENST00000335854.8:c.764T>C	ENSP00000337131.4:p.Ile255Thr
ENST00000396198.7:c.836T>C	ENSP00000379501.3:p.Ile279Thr
ENST00000463868.5:n.592T>C
ENST00000498636.1:n.166T>C
NM_000032.4:c.875T>C	NP_000023.2:p.Ile292Thr
NM_001037967.3:c.764T>C	NP_001033056.1:p.Ile255Thr
NM_001037968.3:c.836T>C	NP_001033057.1:p.Ile279Thr
XM_005261995.2:c.947T>C	XP_005262052.1:p.Ile316Thr
XM_011530771.1:c.14T>C	XP_011529073.1:p.Ile5Thr
NM_000032.5:c.875T>C MANE Select	NP_000023.2:p.Ile292Thr
NM_001037967.4:c.764T>C	NP_001033056.1:p.Ile255Thr
NM_001037968.4:c.836T>C	NP_001033057.1:p.Ile279Thr