Canonical Allele Identifier: CA783354248

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1175550719
• gnomAD v3: 19-12665265-C-A
• gnomAD v4: 19-12665265-C-A
• MyVariant Identifiers: chr19:g.12776079C>A (hg19) ; chr19:g.12665265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665265C>A , CM000681.2:g.12665265C>A	GRCh38
NC_000019.9:g.12776079C>A , CM000681.1:g.12776079C>A	GRCh37
NC_000019.8:g.12637079C>A	NCBI36
NG_008318.1:g.6513G>T
NG_015814.1:g.3462C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.436+87G>T MANE Select	ENSP00000395473.2:n.436+87G>T
ENST00000221363.8:c.436+87G>T	ENSP00000221363.4:n.436+87G>T
ENST00000456935.6:c.436+87G>T	ENSP00000395473.2:n.436+87G>T
ENST00000466794.5:n.418+87G>T
ENST00000486847.2:c.333+87G>T	ENSP00000470174.1:n.333+87G>T
ENST00000596512.5:n.374+87G>T
ENST00000597961.1:c.427+87G>T	ENSP00000472710.1:n.427+87G>T
ENST00000598876.1:c.463+87G>T	ENSP00000470533.1:n.463+87G>T
ENST00000600281.1:n.564G>T
NM_000528.3:c.436+87G>T	NP_000519.2:n.436+87G>T
NM_001173498.1:c.436+87G>T	NP_001166969.1:n.436+87G>T
XM_005259913.1:c.436+87G>T	XP_005259970.1:n.436+87G>T
XM_005259913.2:c.436+87G>T	XP_005259970.1:n.436+87G>T
XM_024451518.1:c.-583+87G>T	XP_024307286.1:n.-583+87G>T
NM_000528.4:c.436+87G>T MANE Select	NP_000519.2:n.436+87G>T
NM_001173498.2:c.436+87G>T	NP_001166969.1:n.436+87G>T