Canonical Allele Identifier: CA404255805

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776171C>G (hg19) ; chr19:g.12665357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665357C>G , CM000681.2:g.12665357C>G	GRCh38
NC_000019.9:g.12776171C>G , CM000681.1:g.12776171C>G	GRCh37
NC_000019.8:g.12637171C>G	NCBI36
NG_008318.1:g.6421G>C
NG_015814.1:g.3554C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.431G>C MANE Select	ENSP00000395473.2:p.Arg144Pro
ENST00000221363.8:c.431G>C	ENSP00000221363.4:p.Arg144Pro
ENST00000456935.6:c.431G>C	ENSP00000395473.2:p.Arg144Pro
ENST00000466794.5:n.413G>C
ENST00000486847.2:c.328G>C	ENSP00000470174.1:p.Ala110Pro
ENST00000596512.5:n.369G>C
ENST00000597961.1:c.422G>C	ENSP00000472710.1:p.Arg141Pro
ENST00000598876.1:c.458G>C	ENSP00000470533.1:p.Arg153Pro
ENST00000600281.1:n.472G>C
NM_000528.3:c.431G>C	NP_000519.2:p.Arg144Pro
NM_001173498.1:c.431G>C	NP_001166969.1:p.Arg144Pro
XM_005259913.1:c.431G>C	XP_005259970.1:p.Arg144Pro
XM_005259913.2:c.431G>C	XP_005259970.1:p.Arg144Pro
XM_024451518.1:c.-588G>C	XP_024307286.1:n.-588G>C
NM_000528.4:c.431G>C MANE Select	NP_000519.2:p.Arg144Pro
NM_001173498.2:c.431G>C	NP_001166969.1:p.Arg144Pro