Canonical Allele Identifier: CA502685959
Community Standard Title: NM_001375808.2(LPIN2):c.590+4762G>C
Gene: LPIN2 HGNC NCBI
CHORDC1P4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2946293C>G , CM000680.2:g.2946293C>G GRCh38
NC_000018.9:g.2946291C>G , CM000680.1:g.2946291C>G GRCh37
NC_000018.8:g.2936291C>G NCBI36
NG_007507.1:g.70655G>C , LRG_174:g.70655G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.590+4762G>C (LPIN2) MANE Select NP_001362737.1:n.590+4762G>C
ENST00000677752.1:c.590+4762G>C (LPIN2) MANE Select ENSP00000504857.1:n.590+4762G>C
NM_001375808.1:c.590+4762G>C (LPIN2) NP_001362737.1:n.590+4762G>C
NM_001375809.1:c.590+4762G>C (LPIN2) NP_001362738.1:n.590+4762G>C
NM_014646.2:c.590+4762G>C , LRG_174t1:c.590+4762G>C (LPIN2) NP_055461.1:n.590+4762G>C
NR_026659.1:n.331G>C (CHORDC1P4)
ENST00000261596.8:c.590+4762G>C (LPIN2) ENSP00000261596.4:n.590+4762G>C
ENST00000261596.9:c.590+4762G>C (LPIN2) ENSP00000261596.4:n.590+4762G>C
ENST00000581139.1:n.598G>C (CHORDC1P4)
ENST00000582850.1:n.242G>C (CHORDC1P4)
ENST00000584294.1:c.590+4762G>C (LPIN2) ENSP00000463026.1:n.590+4762G>C
ENST00000697039.1:c.590+4762G>C (LPIN2) ENSP00000513061.1:n.590+4762G>C
ENST00000697040.1:c.590+4762G>C (LPIN2) ENSP00000513062.1:n.590+4762G>C
ENST00000697042.1:c.590+4762G>C (LPIN2) ENSP00000513064.1:n.590+4762G>C
XM_005258177.3:c.701+4762G>C (LPIN2) XP_005258234.1:n.701+4762G>C
XM_005258177.4:c.701+4762G>C (LPIN2) XP_005258234.1:n.701+4762G>C
XM_005258178.2:c.590+4762G>C (LPIN2) XP_005258235.1:n.590+4762G>C
XM_005258178.3:c.590+4762G>C (LPIN2) XP_005258235.1:n.590+4762G>C
XM_005258179.3:c.590+4762G>C (LPIN2) XP_005258236.1:n.590+4762G>C
XM_005258179.5:c.590+4762G>C (LPIN2) XP_005258236.1:n.590+4762G>C
XM_017026098.1:c.590+4762G>C (LPIN2) XP_016881587.1:n.590+4762G>C
XM_017026099.1:c.590+4762G>C (LPIN2) XP_016881588.1:n.590+4762G>C
XR_935074.1:n.719+4762G>C (LPIN2)
XR_935074.2:n.764+4762G>C (LPIN2)