Canonical Allele Identifier: CA8873519
Community Standard Title: NM_001375808.2(LPIN2):c.590+8T>G
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2951047A>C , CM000680.2:g.2951047A>C GRCh38
NC_000018.9:g.2951045A>C , CM000680.1:g.2951045A>C GRCh37
NC_000018.8:g.2941045A>C NCBI36
NG_007507.1:g.65901T>G , LRG_174:g.65901T>G

Transcript Alleles

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