Canonical Allele Identifier: CA402569997

Gene: ALPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58537500A>C , CM000680.2:g.58537500A>C	GRCh38
NC_000018.9:g.56204732A>C , CM000680.1:g.56204732A>C	GRCh37
NC_000018.8:g.54355712A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_052947.4:c.2687T>G MANE Select	NP_443179.3:p.Leu896Trp
ENST00000361673.4:c.2687T>G MANE Select	ENSP00000354991.3:p.Leu896Trp
NM_052947.3:c.2687T>G	NP_443179.3:p.Leu896Trp
ENST00000361673.3:c.2687T>G	ENSP00000354991.3:p.Leu896Trp
XM_005266646.3:c.680T>G	XP_005266703.1:p.Leu227Trp
XM_011525801.1:c.2687T>G	XP_011524103.1:p.Leu896Trp
XM_011525801.3:c.2687T>G	XP_011524103.1:p.Leu896Trp
XM_011525802.1:c.2405T>G	XP_011524104.1:p.Leu802Trp
XM_011525802.2:c.2405T>G	XP_011524104.1:p.Leu802Trp
XM_017025535.2:c.2687T>G	XP_016881024.1:p.Leu896Trp
XM_017025536.2:c.2687T>G	XP_016881025.1:p.Leu896Trp
XM_017025537.2:c.2687T>G	XP_016881026.1:p.Leu896Trp
XM_017025538.1:c.680T>G	XP_016881027.1:p.Leu227Trp
XM_017025539.1:c.680T>G	XP_016881028.1:p.Leu227Trp
XR_935194.1:n.3132T>G