Canonical Allele Identifier: CA402570036

Gene: ALPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58537519A>G , CM000680.2:g.58537519A>G	GRCh38
NC_000018.9:g.56204751A>G , CM000680.1:g.56204751A>G	GRCh37
NC_000018.8:g.54355731A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_052947.4:c.2668T>C MANE Select	NP_443179.3:p.Phe890Leu
ENST00000361673.4:c.2668T>C MANE Select	ENSP00000354991.3:p.Phe890Leu
NM_052947.3:c.2668T>C	NP_443179.3:p.Phe890Leu
ENST00000361673.3:c.2668T>C	ENSP00000354991.3:p.Phe890Leu
XM_005266646.3:c.661T>C	XP_005266703.1:p.Phe221Leu
XM_011525801.1:c.2668T>C	XP_011524103.1:p.Phe890Leu
XM_011525801.3:c.2668T>C	XP_011524103.1:p.Phe890Leu
XM_011525802.1:c.2386T>C	XP_011524104.1:p.Phe796Leu
XM_011525802.2:c.2386T>C	XP_011524104.1:p.Phe796Leu
XM_017025535.2:c.2668T>C	XP_016881024.1:p.Phe890Leu
XM_017025536.2:c.2668T>C	XP_016881025.1:p.Phe890Leu
XM_017025537.2:c.2668T>C	XP_016881026.1:p.Phe890Leu
XM_017025538.1:c.661T>C	XP_016881027.1:p.Phe221Leu
XM_017025539.1:c.661T>C	XP_016881028.1:p.Phe221Leu
XR_935194.1:n.3113T>C