Canonical Allele Identifier: CA404248175

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769110C>G (hg19) ; chr19:g.12658296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658296C>G , CM000681.2:g.12658296C>G	GRCh38
NC_000019.9:g.12769110C>G , CM000681.1:g.12769110C>G	GRCh37
NC_000019.8:g.12630110C>G	NCBI36
NG_008318.1:g.13482G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1158G>C MANE Select	ENSP00000395473.2:p.Gln386His
ENST00000221363.8:c.1155G>C	ENSP00000221363.4:p.Gln385His
ENST00000456935.6:c.1158G>C	ENSP00000395473.2:p.Gln386His
ENST00000465830.1:n.322G>C
ENST00000466794.5:n.1057G>C
ENST00000495617.1:n.280+435G>C
NM_000528.3:c.1158G>C	NP_000519.2:p.Gln386His
NM_001173498.1:c.1155G>C	NP_001166969.1:p.Gln385His
XM_005259913.1:c.1161G>C	XP_005259970.1:p.Gln387His
XM_011528017.1:c.57G>C	XP_011526319.1:p.Gln19His
XM_005259913.2:c.1161G>C	XP_005259970.1:p.Gln387His
XM_024451518.1:c.57G>C	XP_024307286.1:p.Gln19His
NM_000528.4:c.1158G>C MANE Select	NP_000519.2:p.Gln386His
NM_001173498.2:c.1155G>C	NP_001166969.1:p.Gln385His