Canonical Allele Identifier: CA404258571

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776600G>C (hg19) ; chr19:g.12665786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665786G>C , CM000681.2:g.12665786G>C	GRCh38
NC_000019.9:g.12776600G>C , CM000681.1:g.12776600G>C	GRCh37
NC_000019.8:g.12637600G>C	NCBI36
NG_008318.1:g.5992C>G
NG_015814.1:g.3983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.179C>G MANE Select	ENSP00000395473.2:p.Pro60Arg
ENST00000221363.8:c.179C>G	ENSP00000221363.4:p.Pro60Arg
ENST00000456935.6:c.179C>G	ENSP00000395473.2:p.Pro60Arg
ENST00000466794.5:n.161C>G
ENST00000486847.2:c.160-261C>G	ENSP00000470174.1:n.160-261C>G
ENST00000596512.5:n.201-261C>G
ENST00000597961.1:c.170C>G	ENSP00000472710.1:p.Pro57Arg
ENST00000598876.1:c.206C>G	ENSP00000470533.1:p.Pro69Arg
ENST00000600281.1:n.220C>G
NM_000528.3:c.179C>G	NP_000519.2:p.Pro60Arg
NM_001173498.1:c.179C>G	NP_001166969.1:p.Pro60Arg
XM_005259913.1:c.179C>G	XP_005259970.1:p.Pro60Arg
XM_005259913.2:c.179C>G	XP_005259970.1:p.Pro60Arg
XM_024451518.1:c.-840C>G	XP_024307286.1:n.-840C>G
NM_000528.4:c.179C>G MANE Select	NP_000519.2:p.Pro60Arg
NM_001173498.2:c.179C>G	NP_001166969.1:p.Pro60Arg