Canonical Allele Identifier: CA7123626

Gene: PCK2 NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24103797G>A , CM000676.2:g.24103797G>A	GRCh38
NC_000014.8:g.24573006G>A , CM000676.1:g.24573006G>A	GRCh37
NC_000014.7:g.23642846G>A	NCBI36
NG_008162.2:g.14524G>A
NG_011697.2:g.16218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216780.9:c.1756G>A (PCK2) MANE Select	ENSP00000216780.4:p.Gly586Ser
ENST00000561028.6:c.-28+10925C>T (NRL) MANE Select	ENSP00000454062.2:n.-28+10925C>T
ENST00000216780.8:c.1756G>A (PCK2)	ENSP00000216780.4:p.Gly586Ser
ENST00000545054.6:c.1354G>A (PCK2)	ENSP00000441826.2:p.Gly452Ser
ENST00000558096.5:c.1258G>A (PCK2)	ENSP00000453656.1:p.Gly420Ser
ENST00000558280.1:c.-254+10925C>T (NRL)	ENSP00000454180.1:n.-254+10925C>T
ENST00000559171.1:c.203+907G>A (PCK2)
ENST00000559250.5:c.1505-45G>A (PCK2)	ENSP00000453444.1:n.1505-45G>A
ENST00000561028.5:c.-28+10925C>T (NRL)	ENSP00000454062.1:n.-28+10925C>T
ENST00000561286.5:c.1354G>A (PCK2)	ENSP00000454011.1:p.Gly452Ser
NM_001291556.1:c.1354G>A (PCK2)	NP_001278485.1:p.Gly452Ser
NM_001308054.1:c.1354G>A (PCK2)	NP_001294983.1:p.Gly452Ser
NM_004563.3:c.1756G>A (PCK2)	NP_004554.3:p.Gly586Ser
XM_005267708.3:c.-254+10925C>T (NRL)	XP_005267765.1:n.-254+10925C>T
XM_005267710.3:c.-28+10925C>T (NRL)	XP_005267767.1:n.-28+10925C>T
XM_006720158.2:c.1469-45G>A (PCK2)	XP_006720221.1:n.1469-45G>A
NM_001354768.1:c.-28+10925C>T (NRL)	NP_001341697.1:n.-28+10925C>T
NM_001354770.1:c.-28+10925C>T (NRL)	NP_001341699.1:n.-28+10925C>T
NM_006177.4:c.-254+10925C>T (NRL)	NP_006168.1:n.-254+10925C>T
XM_006720158.3:c.1469-45G>A (PCK2)	XP_006720221.1:n.1469-45G>A
NM_001291556.2:c.1354G>A (PCK2)	NP_001278485.1:p.Gly452Ser
NM_001308054.2:c.1354G>A (PCK2)	NP_001294983.1:p.Gly452Ser
NM_001354768.3:c.-28+10925C>T (NRL) MANE Select	NP_001341697.1:n.-28+10925C>T
NM_001354770.2:c.-28+10925C>T (NRL)	NP_001341699.1:n.-28+10925C>T
NM_004563.4:c.1756G>A (PCK2) MANE Select	NP_004554.3:p.Gly586Ser
NM_006177.5:c.-254+10925C>T (NRL)	NP_006168.1:n.-254+10925C>T