Canonical Allele Identifier: CA7123390

Gene: PCK2 NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24100209A>G , CM000676.2:g.24100209A>G	GRCh38
NC_000014.8:g.24569418A>G , CM000676.1:g.24569418A>G	GRCh37
NC_000014.7:g.23639258A>G	NCBI36
NG_008162.2:g.10936A>G
NG_011697.2:g.19806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216780.9:c.1230A>G (PCK2) MANE Select	ENSP00000216780.4:p.Lys410=
ENST00000561028.6:c.-28+14513T>C (NRL) MANE Select	ENSP00000454062.2:n.-28+14513T>C
ENST00000216780.8:c.1230A>G (PCK2)	ENSP00000216780.4:p.Lys410=
ENST00000396973.8:c.1230A>G (PCK2)	ENSP00000380171.4:p.Lys410=
ENST00000545054.6:c.828A>G (PCK2)	ENSP00000441826.2:p.Lys276=
ENST00000558096.5:c.828A>G (PCK2)	ENSP00000453656.1:p.Lys276=
ENST00000558280.1:c.-254+14513T>C (NRL)	ENSP00000454180.1:n.-254+14513T>C
ENST00000558674.5:n.2095A>G (PCK2)
ENST00000559171.1:c.61A>G (PCK2)
ENST00000559250.5:c.1266A>G (PCK2)	ENSP00000453444.1:p.Lys422=
ENST00000559503.1:c.744A>G (PCK2)
ENST00000561028.5:c.-28+14513T>C (NRL)	ENSP00000454062.1:n.-28+14513T>C
ENST00000561050.5:n.1822A>G (PCK2)
ENST00000561286.5:c.828A>G (PCK2)	ENSP00000454011.1:p.Lys276=
NM_001018073.2:c.1230A>G (PCK2)	NP_001018083.2:p.Lys410=
NM_001291556.1:c.828A>G (PCK2)	NP_001278485.1:p.Lys276=
NM_001308054.1:c.828A>G (PCK2)	NP_001294983.1:p.Lys276=
NM_004563.3:c.1230A>G (PCK2)	NP_004554.3:p.Lys410=
XM_005267708.3:c.-254+14513T>C (NRL)	XP_005267765.1:n.-254+14513T>C
XM_005267710.3:c.-28+14513T>C (NRL)	XP_005267767.1:n.-28+14513T>C
XM_006720158.2:c.1230A>G (PCK2)	XP_006720221.1:p.Lys410=
NM_001354768.1:c.-28+14513T>C (NRL)	NP_001341697.1:n.-28+14513T>C
NM_001354770.1:c.-28+14513T>C (NRL)	NP_001341699.1:n.-28+14513T>C
NM_006177.4:c.-254+14513T>C (NRL)	NP_006168.1:n.-254+14513T>C
XM_006720158.3:c.1230A>G (PCK2)	XP_006720221.1:p.Lys410=
NM_001018073.3:c.1230A>G (PCK2)	NP_001018083.2:p.Lys410=
NM_001291556.2:c.828A>G (PCK2)	NP_001278485.1:p.Lys276=
NM_001308054.2:c.828A>G (PCK2)	NP_001294983.1:p.Lys276=
NM_001354768.3:c.-28+14513T>C (NRL) MANE Select	NP_001341697.1:n.-28+14513T>C
NM_001354770.2:c.-28+14513T>C (NRL)	NP_001341699.1:n.-28+14513T>C
NM_004563.4:c.1230A>G (PCK2) MANE Select	NP_004554.3:p.Lys410=
NM_006177.5:c.-254+14513T>C (NRL)	NP_006168.1:n.-254+14513T>C