Canonical Allele Identifier: CA8872651

Gene: LPIN2

Linked Data

• ClinVar Variation Id: 234588
• ClinVar RCV Id: RCV000368839 ; RCV001200412 ; RCV002262828 ; RCV003967606
• dbSNP Id: rs187572602
• ExAC: 18:2920357 C / T
• gnomAD v2: 18-2920357-C-T
• gnomAD v3: 18-2920359-C-T
• gnomAD v4: 18-2920359-C-T
• MyVariant Identifiers: chr18:g.2920357C>T (hg19) ; chr18:g.2920359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2920359C>T , CM000680.2:g.2920359C>T	GRCh38
NC_000018.9:g.2920357C>T , CM000680.1:g.2920357C>T	GRCh37
NC_000018.8:g.2910357C>T	NCBI36
NG_007507.1:g.96589G>A , LRG_174:g.96589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261596.9:c.2625G>A	ENSP00000261596.4:p.Pro875=
ENST00000697039.1:c.2546+419G>A	ENSP00000513061.1:n.2546+419G>A
ENST00000697040.1:c.2625G>A	ENSP00000513062.1:p.Pro875=
ENST00000697041.1:c.1660G>A	ENSP00000513063.1:n.1660G>A
ENST00000677752.1:c.2625G>A MANE Select	ENSP00000504857.1:p.Pro875=
ENST00000261596.8:c.2625G>A	ENSP00000261596.4:p.Pro875=
NM_014646.2:c.2625G>A , LRG_174t1:c.2625G>A	NP_055461.1:p.Pro875=
XM_005258177.3:c.2736G>A	XP_005258234.1:p.Pro912=
XM_005258178.2:c.2625G>A	XP_005258235.1:p.Pro875=
XM_005258179.3:c.2625G>A	XP_005258236.1:p.Pro875=
XM_005258177.4:c.2736G>A	XP_005258234.1:p.Pro912=
XM_005258178.3:c.2625G>A	XP_005258235.1:p.Pro875=
XM_005258179.5:c.2625G>A	XP_005258236.1:p.Pro875=
XM_017026098.1:c.2625G>A	XP_016881587.1:p.Pro875=
XM_017026099.1:c.2625G>A	XP_016881588.1:p.Pro875=
NM_001375808.1:c.2625G>A	NP_001362737.1:p.Pro875=
NM_001375809.1:c.2625G>A	NP_001362738.1:p.Pro875=
NM_001375808.2:c.2625G>A MANE Select	NP_001362737.1:p.Pro875=