Canonical Allele Identifier: CA7123498

Gene: PCK2 NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24103234A>G , CM000676.2:g.24103234A>G	GRCh38
NC_000014.8:g.24572443A>G , CM000676.1:g.24572443A>G	GRCh37
NC_000014.7:g.23642283A>G	NCBI36
NG_008162.2:g.13961A>G
NG_011697.2:g.16781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216780.9:c.1447A>G (PCK2) MANE Select	ENSP00000216780.4:p.Thr483Ala
ENST00000561028.6:c.-28+11488T>C (NRL) MANE Select	ENSP00000454062.2:n.-28+11488T>C
ENST00000216780.8:c.1447A>G (PCK2)	ENSP00000216780.4:p.Thr483Ala
ENST00000545054.6:c.1045A>G (PCK2)	ENSP00000441826.2:p.Thr349Ala
ENST00000557969.1:n.291A>G (PCK2)
ENST00000558096.5:c.971-276A>G (PCK2)	ENSP00000453656.1:n.971-276A>G
ENST00000558280.1:c.-254+11488T>C (NRL)	ENSP00000454180.1:n.-254+11488T>C
ENST00000559171.1:c.203+344A>G (PCK2)
ENST00000559250.5:c.1483A>G (PCK2)	ENSP00000453444.1:p.Thr495Ala
ENST00000561028.5:c.-28+11488T>C (NRL)	ENSP00000454062.1:n.-28+11488T>C
ENST00000561286.5:c.1045A>G (PCK2)	ENSP00000454011.1:p.Thr349Ala
NM_001291556.1:c.1045A>G (PCK2)	NP_001278485.1:p.Thr349Ala
NM_001308054.1:c.1045A>G (PCK2)	NP_001294983.1:p.Thr349Ala
NM_004563.3:c.1447A>G (PCK2)	NP_004554.3:p.Thr483Ala
XM_005267708.3:c.-254+11488T>C (NRL)	XP_005267765.1:n.-254+11488T>C
XM_005267710.3:c.-28+11488T>C (NRL)	XP_005267767.1:n.-28+11488T>C
XM_006720158.2:c.1447A>G (PCK2)	XP_006720221.1:p.Thr483Ala
NM_001354768.1:c.-28+11488T>C (NRL)	NP_001341697.1:n.-28+11488T>C
NM_001354770.1:c.-28+11488T>C (NRL)	NP_001341699.1:n.-28+11488T>C
NM_006177.4:c.-254+11488T>C (NRL)	NP_006168.1:n.-254+11488T>C
XM_006720158.3:c.1447A>G (PCK2)	XP_006720221.1:p.Thr483Ala
NM_001291556.2:c.1045A>G (PCK2)	NP_001278485.1:p.Thr349Ala
NM_001308054.2:c.1045A>G (PCK2)	NP_001294983.1:p.Thr349Ala
NM_001354768.3:c.-28+11488T>C (NRL) MANE Select	NP_001341697.1:n.-28+11488T>C
NM_001354770.2:c.-28+11488T>C (NRL)	NP_001341699.1:n.-28+11488T>C
NM_004563.4:c.1447A>G (PCK2) MANE Select	NP_004554.3:p.Thr483Ala
NM_006177.5:c.-254+11488T>C (NRL)	NP_006168.1:n.-254+11488T>C