Canonical Allele Identifier: CA2813646000

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665263C>G , CM000681.2:g.12665263C>G	GRCh38
NC_000019.9:g.12776077C>G , CM000681.1:g.12776077C>G	GRCh37
NC_000019.8:g.12637077C>G	NCBI36
NG_008318.1:g.6515G>C
NG_015814.1:g.3460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.436+89G>C MANE Select	ENSP00000395473.2:n.436+89G>C
ENST00000221363.8:c.436+89G>C	ENSP00000221363.4:n.436+89G>C
ENST00000456935.6:c.436+89G>C	ENSP00000395473.2:n.436+89G>C
ENST00000466794.5:n.418+89G>C
ENST00000486847.2:c.333+89G>C	ENSP00000470174.1:n.333+89G>C
ENST00000596512.5:n.374+89G>C
ENST00000597961.1:c.427+89G>C	ENSP00000472710.1:n.427+89G>C
ENST00000598876.1:c.463+89G>C	ENSP00000470533.1:n.463+89G>C
ENST00000600281.1:n.566G>C
NM_000528.3:c.436+89G>C	NP_000519.2:n.436+89G>C
NM_001173498.1:c.436+89G>C	NP_001166969.1:n.436+89G>C
XM_005259913.1:c.436+89G>C	XP_005259970.1:n.436+89G>C
XM_005259913.2:c.436+89G>C	XP_005259970.1:n.436+89G>C
XM_024451518.1:c.-583+89G>C	XP_024307286.1:n.-583+89G>C
NM_000528.4:c.436+89G>C MANE Select	NP_000519.2:n.436+89G>C
NM_001173498.2:c.436+89G>C	NP_001166969.1:n.436+89G>C