Canonical Allele Identifier: CA8872832
Community Standard Title: NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr)
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2923788G>A , CM000680.2:g.2923788G>A GRCh38
NC_000018.9:g.2923786G>A , CM000680.1:g.2923786G>A GRCh37
NC_000018.8:g.2913786G>A NCBI36
NG_007507.1:g.93160C>T , LRG_174:g.93160C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.2161C>T MANE Select NP_001362737.1:p.His721Tyr
ENST00000677752.1:c.2161C>T MANE Select ENSP00000504857.1:p.His721Tyr
NM_001375808.1:c.2161C>T NP_001362737.1:p.His721Tyr
NM_001375809.1:c.2161C>T NP_001362738.1:p.His721Tyr
NM_014646.2:c.2161C>T , LRG_174t1:c.2161C>T NP_055461.1:p.His721Tyr
ENST00000261596.8:c.2161C>T ENSP00000261596.4:p.His721Tyr
ENST00000261596.9:c.2161C>T ENSP00000261596.4:p.His721Tyr
ENST00000697039.1:c.2161C>T ENSP00000513061.1:p.His721Tyr
ENST00000697040.1:c.2161C>T ENSP00000513062.1:p.His721Tyr
ENST00000697041.1:c.856C>T ENSP00000513063.1:p.His286Tyr
XM_005258177.3:c.2272C>T XP_005258234.1:p.His758Tyr
XM_005258177.4:c.2272C>T XP_005258234.1:p.His758Tyr
XM_005258178.2:c.2161C>T XP_005258235.1:p.His721Tyr
XM_005258178.3:c.2161C>T XP_005258235.1:p.His721Tyr
XM_005258179.3:c.2161C>T XP_005258236.1:p.His721Tyr
XM_005258179.5:c.2161C>T XP_005258236.1:p.His721Tyr
XM_017026098.1:c.2161C>T XP_016881587.1:p.His721Tyr
XM_017026099.1:c.2161C>T XP_016881588.1:p.His721Tyr