Canonical Allele Identifier: CA2323507847

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665724C= , CM000681.2:g.12665724C=	GRCh38
NC_000019.9:g.12776538C= , CM000681.1:g.12776538C=	GRCh37
NC_000019.8:g.12637538C=	NCBI36
NG_008318.1:g.6054G=
NG_015814.1:g.3921C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.241G= MANE Select	ENSP00000395473.2:p.Val81=
ENST00000221363.8:c.241G=	ENSP00000221363.4:p.Val81=
ENST00000456935.6:c.241G=	ENSP00000395473.2:p.Val81=
ENST00000466794.5:n.223G=
ENST00000486847.2:c.160-199G=	ENSP00000470174.1:n.160-199G=
ENST00000596512.5:n.201-199G=
ENST00000597961.1:c.232G=	ENSP00000472710.1:p.Val78=
ENST00000598876.1:c.268G=	ENSP00000470533.1:p.Val90=
ENST00000600281.1:n.282G=
NM_000528.3:c.241G=	NP_000519.2:p.Val81=
NM_001173498.1:c.241G=	NP_001166969.1:p.Val81=
XM_005259913.1:c.241G=	XP_005259970.1:p.Val81=
XM_005259913.2:c.241G=	XP_005259970.1:p.Val81=
XM_024451518.1:c.-778G=	XP_024307286.1:n.-778G=
NM_000528.4:c.241G= MANE Select	NP_000519.2:p.Val81=
NM_001173498.2:c.241G=	NP_001166969.1:p.Val81=