Canonical Allele Identifier: CA7741527

Gene: MAN2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90910880C>T , CM000677.2:g.90910880C>T	GRCh38
NC_000015.9:g.91454110C>T , CM000677.1:g.91454110C>T	GRCh37
NC_000015.8:g.89255114C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559717.6:c.1794C>T MANE Select	ENSP00000452948.1:p.Val598=
ENST00000360468.7:c.1794C>T	ENSP00000353655.3:p.Val598=
ENST00000557865.5:c.723C>T	ENSP00000453140.1:p.Val241=
ENST00000558161.5:c.1794C>T	ENSP00000452631.1:p.Val598=
ENST00000558171.1:c.355C>T
ENST00000559717.5:c.1794C>T	ENSP00000452948.1:p.Val598=
ENST00000560192.5:n.2156C>T
ENST00000560451.5:c.1794C>T	ENSP00000453999.1:p.Val598=
ENST00000560505.1:n.98C>T
ENST00000560616.5:c.503C>T
ENST00000561240.1:n.108C>T
NM_006122.2:c.1794C>T	NP_006113.2:p.Val598=
XM_005254910.2:c.1794C>T	XP_005254967.1:p.Val598=
XM_011521562.1:c.1794C>T	XP_011519864.1:p.Val598=
XM_011521563.1:c.1794C>T	XP_011519865.1:p.Val598=
XM_011521564.1:c.1794C>T	XP_011519866.1:p.Val598=
XM_011521565.1:c.531C>T	XP_011519867.1:p.Val177=
XM_011521566.1:c.531C>T	XP_011519868.1:p.Val177=
XR_243208.2:n.1812C>T
XR_931828.1:n.1812C>T
XR_931829.1:n.1812C>T
XR_931830.1:n.1812C>T
XR_931831.1:n.1812C>T
NM_001320977.1:c.1794C>T	NP_001307906.1:p.Val598=
NM_006122.3:c.1794C>T	NP_006113.2:p.Val598=
NR_135502.1:n.2087C>T
NR_135503.1:n.2087C>T
NR_135504.1:n.1812C>T
XM_005254910.3:c.1794C>T	XP_005254967.1:p.Val598=
XM_011521565.2:c.531C>T	XP_011519867.1:p.Val177=
XM_011521566.2:c.531C>T	XP_011519868.1:p.Val177=
XM_017022184.1:c.1794C>T	XP_016877673.1:p.Val598=
XM_017022185.1:c.1794C>T	XP_016877674.1:p.Val598=
XM_024449920.1:c.1794C>T	XP_024305688.1:p.Val598=
XM_024449921.1:c.1794C>T	XP_024305689.1:p.Val598=
XM_024449922.1:c.1794C>T	XP_024305690.1:p.Val598=
XM_024449923.1:c.1794C>T	XP_024305691.1:p.Val598=
XM_024449924.1:c.1794C>T	XP_024305692.1:p.Val598=
XR_001751281.2:n.2252C>T
XR_002957636.1:n.2252C>T
XR_002957637.1:n.2252C>T
XR_931829.2:n.2252C>T
NM_006122.4:c.1794C>T MANE Select	NP_006113.2:p.Val598=
NM_001320977.2:c.1794C>T	NP_001307906.1:p.Val598=
NR_135502.2:n.2123C>T
NR_135503.2:n.2123C>T