Canonical Allele Identifier: CA9226793

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664967T>C , CM000681.2:g.12664967T>C	GRCh38
NC_000019.9:g.12775781T>C , CM000681.1:g.12775781T>C	GRCh37
NC_000019.8:g.12636781T>C	NCBI36
NG_008318.1:g.6811A>G
NG_015814.1:g.3164T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.455A>G MANE Select	NP_000519.2:p.Asn152Ser
ENST00000456935.7:c.455A>G MANE Select	ENSP00000395473.2:p.Asn152Ser
NM_000528.3:c.455A>G	NP_000519.2:p.Asn152Ser
NM_001173498.1:c.455A>G	NP_001166969.1:p.Asn152Ser
NM_001173498.2:c.455A>G	NP_001166969.1:p.Asn152Ser
ENST00000221363.8:c.455A>G	ENSP00000221363.4:p.Asn152Ser
ENST00000456935.6:c.455A>G	ENSP00000395473.2:p.Asn152Ser
ENST00000466794.5:n.437A>G
ENST00000486847.2:c.333+385A>G	ENSP00000470174.1:n.333+385A>G
ENST00000596512.5:n.393A>G
ENST00000597961.1:c.446A>G	ENSP00000472710.1:p.Asn149Ser
ENST00000598876.1:c.482A>G	ENSP00000470533.1:p.Asn161Ser
XM_005259913.1:c.455A>G	XP_005259970.1:p.Asn152Ser
XM_005259913.2:c.455A>G	XP_005259970.1:p.Asn152Ser
XM_024451518.1:c.-564A>G	XP_024307286.1:n.-564A>G