Canonical Allele Identifier: CA9226773

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 328280
• ClinVar RCV Id: RCV000327235
• dbSNP Id: rs200872797
• ExAC: 19:12775639 G / A
• gnomAD v2: 19-12775639-G-A
• gnomAD v3: 19-12664825-G-A
• gnomAD v4: 19-12664825-G-A
• MyVariant Identifiers: chr19:g.12775639G>A (hg19) ; chr19:g.12664825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664825G>A , CM000681.2:g.12664825G>A	GRCh38
NC_000019.9:g.12775639G>A , CM000681.1:g.12775639G>A	GRCh37
NC_000019.8:g.12636639G>A	NCBI36
NG_008318.1:g.6953C>T
NG_015814.1:g.3022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.597C>T MANE Select	ENSP00000395473.2:p.Gly199=
ENST00000221363.8:c.597C>T	ENSP00000221363.4:p.Gly199=
ENST00000456935.6:c.597C>T	ENSP00000395473.2:p.Gly199=
ENST00000466794.5:n.579C>T
ENST00000486847.2:c.333+527C>T	ENSP00000470174.1:n.333+527C>T
ENST00000596512.5:n.535C>T
NM_000528.3:c.597C>T	NP_000519.2:p.Gly199=
NM_001173498.1:c.597C>T	NP_001166969.1:p.Gly199=
XM_005259913.1:c.597C>T	XP_005259970.1:p.Gly199=
XM_005259913.2:c.597C>T	XP_005259970.1:p.Gly199=
XM_024451518.1:c.-422C>T	XP_024307286.1:n.-422C>T
NM_000528.4:c.597C>T MANE Select	NP_000519.2:p.Gly199=
NM_001173498.2:c.597C>T	NP_001166969.1:p.Gly199=