Canonical Allele Identifier: CA105276545
Gene: AFG2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.123130312A>G , CM000666.2:g.123130312A>G GRCh38
NC_000004.11:g.124051467A>G , CM000666.1:g.124051467A>G GRCh37
NC_000004.10:g.124270917A>G NCBI36
NG_051570.1:g.212243A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274008.5:c.2340+39607A>G MANE Select ENSP00000274008.3:n.2340+39607A>G
ENST00000675612.1:c.2409+39607A>G ENSP00000502453.1:n.2409+39607A>G
ENST00000274008.4:c.2340+39607A>G ENSP00000274008.3:n.2340+39607A>G
NM_145207.2:c.2340+39607A>G NP_660208.2:n.2340+39607A>G
XM_005262783.3:c.2337+39607A>G XP_005262840.1:n.2337+39607A>G
XM_011531678.1:c.2409+39607A>G XP_011529980.1:n.2409+39607A>G
NM_001345856.1:c.2337+39607A>G NP_001332785.1:n.2337+39607A>G
XM_011531678.2:c.2409+39607A>G XP_011529980.1:n.2409+39607A>G
XM_017007825.1:c.2412+39607A>G XP_016863314.1:n.2412+39607A>G
XM_017007826.1:c.2412+39607A>G XP_016863315.1:n.2412+39607A>G
XM_017007828.1:c.2118+39607A>G XP_016863317.1:n.2118+39607A>G
XM_017007829.1:c.1956+39607A>G XP_016863318.1:n.1956+39607A>G
XR_001741151.1:n.2498+39607A>G
NM_145207.3:c.2340+39607A>G MANE Select NP_660208.2:n.2340+39607A>G
NM_001345856.2:c.2337+39607A>G NP_001332785.1:n.2337+39607A>G