Canonical Allele Identifier: CA14543806
Gene: LPIN2 HGNC NCBI

Linked Data

dbSNP Id: rs10460009
gnomAD v2: 18-2948029-C-T
gnomAD v3: 18-2948031-C-T
gnomAD v4: 18-2948031-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2948031C>T , CM000680.2:g.2948031C>T GRCh38
NC_000018.9:g.2948029C>T , CM000680.1:g.2948029C>T GRCh37
NC_000018.8:g.2938029C>T NCBI36
NG_007507.1:g.68917G>A , LRG_174:g.68917G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261596.9:c.590+3024G>A ENSP00000261596.4:n.590+3024G>A
ENST00000697039.1:c.590+3024G>A ENSP00000513061.1:n.590+3024G>A
ENST00000697040.1:c.590+3024G>A ENSP00000513062.1:n.590+3024G>A
ENST00000697042.1:c.590+3024G>A ENSP00000513064.1:n.590+3024G>A
ENST00000677752.1:c.590+3024G>A MANE Select ENSP00000504857.1:n.590+3024G>A
ENST00000261596.8:c.590+3024G>A ENSP00000261596.4:n.590+3024G>A
ENST00000584294.1:c.590+3024G>A ENSP00000463026.1:n.590+3024G>A
NM_014646.2:c.590+3024G>A , LRG_174t1:c.590+3024G>A NP_055461.1:n.590+3024G>A
XM_005258177.3:c.701+3024G>A XP_005258234.1:n.701+3024G>A
XM_005258178.2:c.590+3024G>A XP_005258235.1:n.590+3024G>A
XM_005258179.3:c.590+3024G>A XP_005258236.1:n.590+3024G>A
XR_935074.1:n.719+3024G>A
XM_005258177.4:c.701+3024G>A XP_005258234.1:n.701+3024G>A
XM_005258178.3:c.590+3024G>A XP_005258235.1:n.590+3024G>A
XM_005258179.5:c.590+3024G>A XP_005258236.1:n.590+3024G>A
XM_017026098.1:c.590+3024G>A XP_016881587.1:n.590+3024G>A
XM_017026099.1:c.590+3024G>A XP_016881588.1:n.590+3024G>A
XR_935074.2:n.764+3024G>A
NM_001375808.1:c.590+3024G>A NP_001362737.1:n.590+3024G>A
NM_001375809.1:c.590+3024G>A NP_001362738.1:n.590+3024G>A
NM_001375808.2:c.590+3024G>A MANE Select NP_001362737.1:n.590+3024G>A