Canonical Allele Identifier: CA404243320

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760969G>C (hg19) ; chr19:g.12650155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650155G>C , CM000681.2:g.12650155G>C	GRCh38
NC_000019.9:g.12760969G>C , CM000681.1:g.12760969G>C	GRCh37
NC_000019.8:g.12621969G>C	NCBI36
NG_008318.1:g.21623C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2114C>G MANE Select	ENSP00000395473.2:p.Pro705Arg
ENST00000221363.8:c.2111C>G	ENSP00000221363.4:p.Pro704Arg
ENST00000456935.6:c.2114C>G	ENSP00000395473.2:p.Pro705Arg
ENST00000466794.5:n.2704C>G
NM_000528.3:c.2114C>G	NP_000519.2:p.Pro705Arg
NM_001173498.1:c.2111C>G	NP_001166969.1:p.Pro704Arg
XM_005259913.1:c.2117C>G	XP_005259970.1:p.Pro706Arg
XM_011528017.1:c.1013C>G	XP_011526319.1:p.Pro338Arg
XM_005259913.2:c.2117C>G	XP_005259970.1:p.Pro706Arg
XM_024451518.1:c.1013C>G	XP_024307286.1:p.Pro338Arg
NM_000528.4:c.2114C>G MANE Select	NP_000519.2:p.Pro705Arg
NM_001173498.2:c.2111C>G	NP_001166969.1:p.Pro704Arg