Canonical Allele Identifier: CA404248195

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658299-G-C
• MyVariant Identifiers: chr19:g.12769113G>C (hg19) ; chr19:g.12658299G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658299G>C , CM000681.2:g.12658299G>C	GRCh38
NC_000019.9:g.12769113G>C , CM000681.1:g.12769113G>C	GRCh37
NC_000019.8:g.12630113G>C	NCBI36
NG_008318.1:g.13479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1155C>G MANE Select	ENSP00000395473.2:p.His385Gln
ENST00000221363.8:c.1152C>G	ENSP00000221363.4:p.His384Gln
ENST00000456935.6:c.1155C>G	ENSP00000395473.2:p.His385Gln
ENST00000465830.1:n.319C>G
ENST00000466794.5:n.1054C>G
ENST00000495617.1:n.280+432C>G
NM_000528.3:c.1155C>G	NP_000519.2:p.His385Gln
NM_001173498.1:c.1152C>G	NP_001166969.1:p.His384Gln
XM_005259913.1:c.1158C>G	XP_005259970.1:p.His386Gln
XM_011528017.1:c.54C>G	XP_011526319.1:p.His18Gln
XM_005259913.2:c.1158C>G	XP_005259970.1:p.His386Gln
XM_024451518.1:c.54C>G	XP_024307286.1:p.His18Gln
NM_000528.4:c.1155C>G MANE Select	NP_000519.2:p.His385Gln
NM_001173498.2:c.1152C>G	NP_001166969.1:p.His384Gln