Canonical Allele Identifier: CA8872778

Gene: LPIN2

Linked Data

• dbSNP Id: rs750526323
• ExAC: 18:2922055 C / G
• gnomAD v2: 18-2922055-C-G
• gnomAD v4: 18-2922057-C-G
• MyVariant Identifiers: chr18:g.2922055C>G (hg19) ; chr18:g.2922057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2922057C>G , CM000680.2:g.2922057C>G	GRCh38
NC_000018.9:g.2922055C>G , CM000680.1:g.2922055C>G	GRCh37
NC_000018.8:g.2912055C>G	NCBI36
NG_007507.1:g.94891G>C , LRG_174:g.94891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.2317G>C	ENSP00000261596.4:p.Ala773Pro
ENST00000697039.1:c.2317G>C	ENSP00000513061.1:p.Ala773Pro
ENST00000697040.1:c.2317G>C	ENSP00000513062.1:p.Ala773Pro
ENST00000697041.1:c.1012G>C	ENSP00000513063.1:p.Ala338Pro
ENST00000677752.1:c.2317G>C MANE Select	ENSP00000504857.1:p.Ala773Pro
ENST00000261596.8:c.2317G>C	ENSP00000261596.4:p.Ala773Pro
NM_014646.2:c.2317G>C , LRG_174t1:c.2317G>C	NP_055461.1:p.Ala773Pro
XM_005258177.3:c.2428G>C	XP_005258234.1:p.Ala810Pro
XM_005258178.2:c.2317G>C	XP_005258235.1:p.Ala773Pro
XM_005258179.3:c.2317G>C	XP_005258236.1:p.Ala773Pro
XM_005258177.4:c.2428G>C	XP_005258234.1:p.Ala810Pro
XM_005258178.3:c.2317G>C	XP_005258235.1:p.Ala773Pro
XM_005258179.5:c.2317G>C	XP_005258236.1:p.Ala773Pro
XM_017026098.1:c.2317G>C	XP_016881587.1:p.Ala773Pro
XM_017026099.1:c.2317G>C	XP_016881588.1:p.Ala773Pro
NM_001375808.1:c.2317G>C	NP_001362737.1:p.Ala773Pro
NM_001375809.1:c.2317G>C	NP_001362738.1:p.Ala773Pro
NM_001375808.2:c.2317G>C MANE Select	NP_001362737.1:p.Ala773Pro