Canonical Allele Identifier: CA10652019
Gene: ALAS2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55021285A>G , CM000685.2:g.55021285A>G GRCh38
NC_000023.10:g.55047718A>G , CM000685.1:g.55047718A>G GRCh37
NC_000023.9:g.55064443A>G NCBI36
NG_008983.1:g.14780T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000455688.2:c.200-11T>C ENSP00000407204.2:n.200-11T>C
ENST00000477869.6:c.89-11T>C ENSP00000496725.1:n.89-11T>C
ENST00000493869.2:c.305-781T>C ENSP00000495713.1:n.305-781T>C
ENST00000644983.1:c.488-11T>C ENSP00000495814.1:n.488-11T>C
ENST00000650242.1:c.416-11T>C MANE Select ENSP00000497236.1:n.416-11T>C
ENST00000330807.9:c.416-11T>C ENSP00000332369.5:n.416-11T>C
ENST00000335854.8:c.305-11T>C ENSP00000337131.4:n.305-11T>C
ENST00000396198.7:c.377-11T>C ENSP00000379501.3:n.377-11T>C
ENST00000455688.1:c.271-11T>C
ENST00000463868.5:n.356-781T>C
ENST00000477869.5:n.160-11T>C
ENST00000493869.1:n.356-11T>C
NM_000032.4:c.416-11T>C NP_000023.2:n.416-11T>C
NM_001037967.3:c.305-11T>C NP_001033056.1:n.305-11T>C
NM_001037968.3:c.377-11T>C NP_001033057.1:n.377-11T>C
XM_005261995.2:c.488-11T>C XP_005262052.1:n.488-11T>C
XM_011530771.1:c.-223-781T>C XP_011529073.1:n.-223-781T>C
NM_000032.5:c.416-11T>C MANE Select NP_000023.2:n.416-11T>C
NM_001037967.4:c.305-11T>C NP_001033056.1:n.305-11T>C
NM_001037968.4:c.377-11T>C NP_001033057.1:n.377-11T>C