Canonical Allele Identifier: CA300926437

Gene: ALPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58535636A>G , CM000680.2:g.58535636A>G	GRCh38
NC_000018.9:g.56202868A>G , CM000680.1:g.56202868A>G	GRCh37
NC_000018.8:g.54353848A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_052947.4:c.4551T>C MANE Select	NP_443179.3:p.Ser1517=
ENST00000361673.4:c.4551T>C MANE Select	ENSP00000354991.3:p.Ser1517=
NM_052947.3:c.4551T>C	NP_443179.3:p.Ser1517=
ENST00000361673.3:c.4551T>C	ENSP00000354991.3:p.Ser1517=
ENST00000589204.1:n.1484T>C
XM_005266646.3:c.2544T>C	XP_005266703.1:p.Ser848=
XM_011525801.1:c.4551T>C	XP_011524103.1:p.Ser1517=
XM_011525801.3:c.4551T>C	XP_011524103.1:p.Ser1517=
XM_011525802.1:c.4269T>C	XP_011524104.1:p.Ser1423=
XM_011525802.2:c.4269T>C	XP_011524104.1:p.Ser1423=
XM_017025535.2:c.4551T>C	XP_016881024.1:p.Ser1517=
XM_017025536.2:c.4551T>C	XP_016881025.1:p.Ser1517=
XM_017025537.2:c.4551T>C	XP_016881026.1:p.Ser1517=
XM_017025538.1:c.2544T>C	XP_016881027.1:p.Ser848=
XM_017025539.1:c.2544T>C	XP_016881028.1:p.Ser848=
XR_935194.1:n.4996T>C