Canonical Allele Identifier: CA502680329
Community Standard Title: NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=)
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2924451C>G , CM000680.2:g.2924451C>G GRCh38
NC_000018.9:g.2924449C>G , CM000680.1:g.2924449C>G GRCh37
NC_000018.8:g.2914449C>G NCBI36
NG_007507.1:g.92497G>C , LRG_174:g.92497G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.2034G>C MANE Select NP_001362737.1:p.Leu678=
ENST00000677752.1:c.2034G>C MANE Select ENSP00000504857.1:p.Leu678=
NM_001375808.1:c.2034G>C NP_001362737.1:p.Leu678=
NM_001375809.1:c.2034G>C NP_001362738.1:p.Leu678=
NM_014646.2:c.2034G>C , LRG_174t1:c.2034G>C NP_055461.1:p.Leu678=
ENST00000261596.8:c.2034G>C ENSP00000261596.4:p.Leu678=
ENST00000261596.9:c.2034G>C ENSP00000261596.4:p.Leu678=
ENST00000697039.1:c.2034G>C ENSP00000513061.1:p.Leu678=
ENST00000697040.1:c.2034G>C ENSP00000513062.1:p.Leu678=
ENST00000697041.1:c.729G>C ENSP00000513063.1:p.Leu243=
XM_005258177.3:c.2145G>C XP_005258234.1:p.Leu715=
XM_005258177.4:c.2145G>C XP_005258234.1:p.Leu715=
XM_005258178.2:c.2034G>C XP_005258235.1:p.Leu678=
XM_005258178.3:c.2034G>C XP_005258235.1:p.Leu678=
XM_005258179.3:c.2034G>C XP_005258236.1:p.Leu678=
XM_005258179.5:c.2034G>C XP_005258236.1:p.Leu678=
XM_017026098.1:c.2034G>C XP_016881587.1:p.Leu678=
XM_017026099.1:c.2034G>C XP_016881588.1:p.Leu678=