Canonical Allele Identifier: CA7123013

Gene: PCK2 NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24096930C>G , CM000676.2:g.24096930C>G	GRCh38
NC_000014.8:g.24566139C>G , CM000676.1:g.24566139C>G	GRCh37
NC_000014.7:g.23635979C>G	NCBI36
NG_008162.2:g.7657C>G
NG_011697.2:g.23085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216780.9:c.68C>G (PCK2) MANE Select	ENSP00000216780.4:p.Ser23Ter
ENST00000561028.6:c.-27-14055G>C (NRL) MANE Select	ENSP00000454062.2:n.-27-14055G>C
ENST00000216780.8:c.68C>G (PCK2)	ENSP00000216780.4:p.Ser23Ter
ENST00000396973.8:c.68C>G (PCK2)	ENSP00000380171.4:p.Ser23Ter
ENST00000545054.6:c.-335C>G (PCK2)	ENSP00000441826.2:n.-335C>G
ENST00000558096.5:c.-335C>G (PCK2)	ENSP00000453656.1:n.-335C>G
ENST00000558280.1:c.-253-12185G>C (NRL)	ENSP00000454180.1:n.-253-12185G>C
ENST00000558674.5:n.572C>G (PCK2)
ENST00000559250.5:c.104C>G (PCK2)	ENSP00000453444.1:p.Ser35Ter
ENST00000559584.5:c.*195C>G (PCK2)	ENSP00000452748.1:n.*195C>G
ENST00000559837.5:c.-335C>G (PCK2)	ENSP00000453751.1:n.-335C>G
ENST00000560106.5:c.*19C>G (PCK2)	ENSP00000454020.1:n.*19C>G
ENST00000560657.1:n.426C>G (PCK2)
ENST00000560736.5:c.-335C>G (PCK2)	ENSP00000453998.1:n.-335C>G
ENST00000561028.5:c.-27-14055G>C (NRL)	ENSP00000454062.1:n.-27-14055G>C
ENST00000561050.5:n.574C>G (PCK2)
ENST00000561286.5:c.-127-1273C>G (PCK2)	ENSP00000454011.1:n.-127-1273C>G
NM_001018073.2:c.68C>G (PCK2)	NP_001018083.2:p.Ser23Ter
NM_001291556.1:c.-127-1273C>G (PCK2)	NP_001278485.1:n.-127-1273C>G
NM_001308054.1:c.-335C>G (PCK2)	NP_001294983.1:n.-335C>G
NM_004563.3:c.68C>G (PCK2)	NP_004554.3:p.Ser23Ter
XM_005267708.3:c.-253-12185G>C (NRL)	XP_005267765.1:n.-253-12185G>C
XM_005267710.3:c.-27-14055G>C (NRL)	XP_005267767.1:n.-27-14055G>C
XM_006720158.2:c.68C>G (PCK2)	XP_006720221.1:p.Ser23Ter
NM_001354768.1:c.-27-14055G>C (NRL)	NP_001341697.1:n.-27-14055G>C
NM_001354770.1:c.-27-14055G>C (NRL)	NP_001341699.1:n.-27-14055G>C
NM_006177.4:c.-253-12185G>C (NRL)	NP_006168.1:n.-253-12185G>C
XM_006720158.3:c.68C>G (PCK2)	XP_006720221.1:p.Ser23Ter
NM_001018073.3:c.68C>G (PCK2)	NP_001018083.2:p.Ser23Ter
NM_001291556.2:c.-127-1273C>G (PCK2)	NP_001278485.1:n.-127-1273C>G
NM_001308054.2:c.-335C>G (PCK2)	NP_001294983.1:n.-335C>G
NM_001354768.3:c.-27-14055G>C (NRL) MANE Select	NP_001341697.1:n.-27-14055G>C
NM_001354770.2:c.-27-14055G>C (NRL)	NP_001341699.1:n.-27-14055G>C
NM_004563.4:c.68C>G (PCK2) MANE Select	NP_004554.3:p.Ser23Ter
NM_006177.5:c.-253-12185G>C (NRL)	NP_006168.1:n.-253-12185G>C