Canonical Allele Identifier: CA9226813

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1633658
• ClinVar RCV Id: RCV002142688
• dbSNP Id: rs373250649
• ExAC: 19:12776154 G / C
• gnomAD v2: 19-12776154-G-C
• gnomAD v4: 19-12665340-G-C
• MyVariant Identifiers: chr19:g.12776154G>C (hg19) ; chr19:g.12665340G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665340G>C , CM000681.2:g.12665340G>C	GRCh38
NC_000019.9:g.12776154G>C , CM000681.1:g.12776154G>C	GRCh37
NC_000019.8:g.12637154G>C	NCBI36
NG_008318.1:g.6438C>G
NG_015814.1:g.3537G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.436+12C>G MANE Select	ENSP00000395473.2:n.436+12C>G
ENST00000221363.8:c.436+12C>G	ENSP00000221363.4:n.436+12C>G
ENST00000456935.6:c.436+12C>G	ENSP00000395473.2:n.436+12C>G
ENST00000466794.5:n.418+12C>G
ENST00000486847.2:c.333+12C>G	ENSP00000470174.1:n.333+12C>G
ENST00000596512.5:n.374+12C>G
ENST00000597961.1:c.427+12C>G	ENSP00000472710.1:n.427+12C>G
ENST00000598876.1:c.463+12C>G	ENSP00000470533.1:n.463+12C>G
ENST00000600281.1:n.489C>G
NM_000528.3:c.436+12C>G	NP_000519.2:n.436+12C>G
NM_001173498.1:c.436+12C>G	NP_001166969.1:n.436+12C>G
XM_005259913.1:c.436+12C>G	XP_005259970.1:n.436+12C>G
XM_005259913.2:c.436+12C>G	XP_005259970.1:n.436+12C>G
XM_024451518.1:c.-583+12C>G	XP_024307286.1:n.-583+12C>G
NM_000528.4:c.436+12C>G MANE Select	NP_000519.2:n.436+12C>G
NM_001173498.2:c.436+12C>G	NP_001166969.1:n.436+12C>G