Canonical Allele Identifier: CA404244873

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655788G>C , CM000681.2:g.12655788G>C	GRCh38
NC_000019.9:g.12766602G>C , CM000681.1:g.12766602G>C	GRCh37
NC_000019.8:g.12627602G>C	NCBI36
NG_008318.1:g.15990C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1736C>G MANE Select	NP_000519.2:p.Ser579Ter
ENST00000456935.7:c.1736C>G MANE Select	ENSP00000395473.2:p.Ser579Ter
NM_000528.3:c.1736C>G	NP_000519.2:p.Ser579Ter
NM_001173498.1:c.1733C>G	NP_001166969.1:p.Ser578Ter
NM_001173498.2:c.1733C>G	NP_001166969.1:p.Ser578Ter
ENST00000221363.8:c.1733C>G	ENSP00000221363.4:p.Ser578Ter
ENST00000433513.5:n.342C>G
ENST00000456935.6:c.1736C>G	ENSP00000395473.2:p.Ser579Ter
ENST00000466794.5:n.2326C>G
ENST00000593686.1:c.329C>G
ENST00000595880.5:n.333C>G
ENST00000596591.1:c.100C>G
XM_005259913.1:c.1739C>G	XP_005259970.1:p.Ser580Ter
XM_005259913.2:c.1739C>G	XP_005259970.1:p.Ser580Ter
XM_011528017.1:c.635C>G	XP_011526319.1:p.Ser212Ter
XM_024451518.1:c.635C>G	XP_024307286.1:p.Ser212Ter