Canonical Allele Identifier: CA2695228380

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647519_12647537dup , CM000681.2:g.12647519_12647537dup	GRCh38
NC_000019.9:g.12758333_12758351dup , CM000681.1:g.12758333_12758351dup	GRCh37
NC_000019.8:g.12619333_12619351dup	NCBI36
NG_008318.1:g.24243_24261dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2728_2746dup MANE Select	ENSP00000395473.2:p.Arg916ProfsTer21
ENST00000221363.8:c.2725_2743dup	ENSP00000221363.4:p.Arg915ProfsTer21
ENST00000456935.6:c.2728_2746dup	ENSP00000395473.2:p.Arg916ProfsTer21
ENST00000466794.5:n.3318_3336dup
ENST00000469423.1:n.50_68dup
ENST00000493218.5:n.139_157dup
ENST00000597692.1:c.287_305dup
NM_000528.3:c.2728_2746dup	NP_000519.2:p.Arg916ProfsTer21
NM_001173498.1:c.2725_2743dup	NP_001166969.1:p.Arg915ProfsTer21
XM_005259913.1:c.2731_2749dup	XP_005259970.1:p.Arg917ProfsTer21
XM_011528017.1:c.1627_1645dup	XP_011526319.1:p.Arg549ProfsTer21
XM_005259913.2:c.2731_2749dup	XP_005259970.1:p.Arg917ProfsTer21
XM_024451518.1:c.1627_1645dup	XP_024307286.1:p.Arg549ProfsTer21
NM_000528.4:c.2728_2746dup MANE Select	NP_000519.2:p.Arg916ProfsTer21
NM_001173498.2:c.2725_2743dup	NP_001166969.1:p.Arg915ProfsTer21