Canonical Allele Identifier: CA404248278

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769127C>G (hg19) ; chr19:g.12658313C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658313C>G , CM000681.2:g.12658313C>G	GRCh38
NC_000019.9:g.12769127C>G , CM000681.1:g.12769127C>G	GRCh37
NC_000019.8:g.12630127C>G	NCBI36
NG_008318.1:g.13465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1141G>C MANE Select	ENSP00000395473.2:p.Ala381Pro
ENST00000221363.8:c.1138G>C	ENSP00000221363.4:p.Ala380Pro
ENST00000456935.6:c.1141G>C	ENSP00000395473.2:p.Ala381Pro
ENST00000465830.1:n.305G>C
ENST00000466794.5:n.1040G>C
ENST00000495617.1:n.280+418G>C
NM_000528.3:c.1141G>C	NP_000519.2:p.Ala381Pro
NM_001173498.1:c.1138G>C	NP_001166969.1:p.Ala380Pro
XM_005259913.1:c.1144G>C	XP_005259970.1:p.Ala382Pro
XM_011528017.1:c.40G>C	XP_011526319.1:p.Ala14Pro
XM_005259913.2:c.1144G>C	XP_005259970.1:p.Ala382Pro
XM_024451518.1:c.40G>C	XP_024307286.1:p.Ala14Pro
NM_000528.4:c.1141G>C MANE Select	NP_000519.2:p.Ala381Pro
NM_001173498.2:c.1138G>C	NP_001166969.1:p.Ala380Pro