Canonical Allele Identifier: CA783354116

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1172175230
• gnomAD v4: 19-12664990-G-A
• MyVariant Identifiers: chr19:g.12775804G>A (hg19) ; chr19:g.12664990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664990G>A , CM000681.2:g.12664990G>A	GRCh38
NC_000019.9:g.12775804G>A , CM000681.1:g.12775804G>A	GRCh37
NC_000019.8:g.12636804G>A	NCBI36
NG_008318.1:g.6788C>T
NG_015814.1:g.3187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.437-5C>T MANE Select	ENSP00000395473.2:n.437-5C>T
ENST00000221363.8:c.437-5C>T	ENSP00000221363.4:n.437-5C>T
ENST00000456935.6:c.437-5C>T	ENSP00000395473.2:n.437-5C>T
ENST00000466794.5:n.419-5C>T
ENST00000486847.2:c.333+362C>T	ENSP00000470174.1:n.333+362C>T
ENST00000596512.5:n.375-5C>T
ENST00000597961.1:c.428-5C>T	ENSP00000472710.1:n.428-5C>T
ENST00000598876.1:c.464-5C>T	ENSP00000470533.1:n.464-5C>T
NM_000528.3:c.437-5C>T	NP_000519.2:n.437-5C>T
NM_001173498.1:c.437-5C>T	NP_001166969.1:n.437-5C>T
XM_005259913.1:c.437-5C>T	XP_005259970.1:n.437-5C>T
XM_005259913.2:c.437-5C>T	XP_005259970.1:n.437-5C>T
XM_024451518.1:c.-582-5C>T	XP_024307286.1:n.-582-5C>T
NM_000528.4:c.437-5C>T MANE Select	NP_000519.2:n.437-5C>T
NM_001173498.2:c.437-5C>T	NP_001166969.1:n.437-5C>T