Canonical Allele Identifier: CA1257347

Gene: PAPPA2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.176595336C>T , CM000663.2:g.176595336C>T	GRCh38
NC_000001.10:g.176564472C>T , CM000663.1:g.176564472C>T	GRCh37
NC_000001.9:g.174831095C>T	NCBI36
NG_023390.1:g.137166C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020318.3:c.1732C>T MANE Select	NP_064714.2:p.Arg578Ter
ENST00000367662.5:c.1732C>T MANE Select	ENSP00000356634.3:p.Arg578Ter
NM_020318.2:c.1732C>T	NP_064714.2:p.Arg578Ter
NM_021936.2:c.1732C>T	NP_068755.2:p.Arg578Ter
NM_021936.3:c.1732C>T	NP_068755.2:p.Arg578Ter
ENST00000367661.7:c.1732C>T	ENSP00000356633.3:p.Arg578Ter
ENST00000367662.4:c.1732C>T	ENSP00000356634.3:p.Arg578Ter
XM_005245422.2:c.1732C>T	XP_005245479.1:p.Arg578Ter
XM_005245422.3:c.1732C>T	XP_005245479.1:p.Arg578Ter
XM_011509857.1:c.1732C>T	XP_011508159.1:p.Arg578Ter
XM_011509858.1:c.1732C>T	XP_011508160.1:p.Arg578Ter
XM_011509858.2:c.1732C>T	XP_011508160.1:p.Arg578Ter
XM_011509859.1:c.1732C>T	XP_011508161.1:p.Arg578Ter
XM_017002023.1:c.1732C>T	XP_016857512.1:p.Arg578Ter
XM_017002024.1:c.1732C>T	XP_016857513.1:p.Arg578Ter
XM_017002025.2:c.1732C>T	XP_016857514.1:p.Arg578Ter
XR_921907.1:n.2896C>T
XR_921907.2:n.2908C>T