Canonical Allele Identifier: CA631834906

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656567T>C , CM000681.2:g.12656567T>C	GRCh38
NC_000019.9:g.12767381T>C , CM000681.1:g.12767381T>C	GRCh37
NC_000019.8:g.12628381T>C	NCBI36
NG_008318.1:g.15211A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1644+4A>G MANE Select	NP_000519.2:n.1644+4A>G
ENST00000456935.7:c.1644+4A>G MANE Select	ENSP00000395473.2:n.1644+4A>G
NM_000528.3:c.1644+4A>G	NP_000519.2:n.1644+4A>G
NM_001173498.1:c.1641+4A>G	NP_001166969.1:n.1641+4A>G
NM_001173498.2:c.1641+4A>G	NP_001166969.1:n.1641+4A>G
ENST00000221363.8:c.1641+4A>G	ENSP00000221363.4:n.1641+4A>G
ENST00000433513.5:n.250+4A>G
ENST00000456935.6:c.1644+4A>G	ENSP00000395473.2:n.1644+4A>G
ENST00000466794.5:n.1547A>G
ENST00000593686.1:c.254+4A>G
ENST00000595880.5:n.241+4A>G
ENST00000596591.1:c.8+4A>G
XM_005259913.1:c.1647+4A>G	XP_005259970.1:n.1647+4A>G
XM_005259913.2:c.1647+4A>G	XP_005259970.1:n.1647+4A>G
XM_011528017.1:c.543+4A>G	XP_011526319.1:n.543+4A>G
XM_024451518.1:c.543+4A>G	XP_024307286.1:n.543+4A>G