Canonical Allele Identifier: CA2573332204

Gene: ALAS2 PAGE2B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55028203T>C , CM000685.2:g.55028203T>C	GRCh38
NC_000023.10:g.55054636T>C , CM000685.1:g.55054636T>C	GRCh37
NC_000023.9:g.55071361T>C	NCBI36
NG_008983.1:g.7862A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.-15-2188A>G (ALAS2) MANE Select	NP_000023.2:n.-15-2188A>G
ENST00000650242.1:c.-15-2188A>G (ALAS2) MANE Select	ENSP00000497236.1:n.-15-2188A>G
NM_000032.4:c.-15-2188A>G (ALAS2)	NP_000023.2:n.-15-2188A>G
NM_001037967.3:c.-15-2188A>G (ALAS2)	NP_001033056.1:n.-15-2188A>G
NM_001037967.4:c.-15-2188A>G (ALAS2)	NP_001033056.1:n.-15-2188A>G
NM_001037968.3:c.-50-346A>G (ALAS2)	NP_001033057.1:n.-50-346A>G
NM_001037968.4:c.-50-346A>G (ALAS2)	NP_001033057.1:n.-50-346A>G
ENST00000330807.9:c.-15-2188A>G (ALAS2)	ENSP00000332369.5:n.-15-2188A>G
ENST00000335854.8:c.-15-2188A>G (ALAS2)	ENSP00000337131.4:n.-15-2188A>G
ENST00000396198.7:c.-50-346A>G (ALAS2)	ENSP00000379501.3:n.-50-346A>G
ENST00000455688.1:c.36+2739A>G (ALAS2)
ENST00000455688.2:c.-36+2739A>G (ALAS2)	ENSP00000407204.2:n.-36+2739A>G
ENST00000463868.5:n.37-2188A>G (ALAS2)
ENST00000477869.5:n.36+2739A>G (ALAS2)
ENST00000477869.6:c.-36+2739A>G (ALAS2)	ENSP00000496725.1:n.-36+2739A>G
ENST00000493869.1:n.37-2188A>G (ALAS2)
ENST00000493869.2:c.-15-2188A>G (ALAS2)	ENSP00000495713.1:n.-15-2188A>G
ENST00000644983.1:c.-50-346A>G (ALAS2)	ENSP00000495814.1:n.-50-346A>G
XM_005261995.2:c.-50-346A>G (ALAS2)	XP_005262052.1:n.-50-346A>G
XM_011530771.1:c.-542-2188A>G (ALAS2)	XP_011529073.1:n.-542-2188A>G
XM_011530785.2:c.-138T>C (PAGE2B)	XP_011529087.1:n.-138T>C