Canonical Allele Identifier: CA277951
Gene: AGPAT2 HGNC NCBI
ClinVar RCV:
RCV000007009
ClinVar Variation:
6630
dbSNP:
606231168
gnomAD v2:
9:139571133 C / G
gnomAD v3:
9:136676681 C / G
gnomAD v4:
chr9-136676681-C-G
Joint Max Group AF 0.00000553 (AMR)
MyVariant.info:
GRCh38 chr9:g.136676681C>G
GRCh37 chr9:g.139571133C>G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136676681C>G , CM000671.2:g.136676681C>G GRCh38
NC_000009.11:g.139571133C>G , CM000671.1:g.139571133C>G GRCh37
NC_000009.10:g.138690954C>G NCBI36
NG_008090.1:g.15779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.493-1G>C MANE Select ENSP00000360761.2:n.493-1G>C
ENST00000371694.7:c.492+280G>C ENSP00000360759.3:n.492+280G>C
ENST00000371696.6:c.493-1G>C ENSP00000360761.2:n.493-1G>C
ENST00000472820.1:n.421-1G>C
ENST00000538402.1:c.493-1G>C ENSP00000438919.1:n.493-1G>C
NM_001012727.1:c.492+280G>C NP_001012745.1:n.492+280G>C
NM_006412.3:c.493-1G>C NP_006403.2:n.493-1G>C
NM_006412.4:c.493-1G>C MANE Select NP_006403.2:n.493-1G>C
NM_001012727.2:c.492+280G>C NP_001012745.1:n.492+280G>C
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