Canonical Allele Identifier: CA993666000

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023821119
• gnomAD v3: 19-12650557-A-G
• gnomAD v4: 19-12650557-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650557A>G , CM000681.2:g.12650557A>G	GRCh38
NC_000019.9:g.12761371A>G , CM000681.1:g.12761371A>G	GRCh37
NC_000019.8:g.12622371A>G	NCBI36
NG_008318.1:g.21221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-335T>C MANE Select	ENSP00000395473.2:n.2047-335T>C
ENST00000221363.8:c.2044-335T>C	ENSP00000221363.4:n.2044-335T>C
ENST00000456935.6:c.2047-335T>C	ENSP00000395473.2:n.2047-335T>C
ENST00000466794.5:n.2637-335T>C
NM_000528.3:c.2047-335T>C	NP_000519.2:n.2047-335T>C
NM_001173498.1:c.2044-335T>C	NP_001166969.1:n.2044-335T>C
XM_005259913.1:c.2050-335T>C	XP_005259970.1:n.2050-335T>C
XM_011528017.1:c.946-335T>C	XP_011526319.1:n.946-335T>C
XM_005259913.2:c.2050-335T>C	XP_005259970.1:n.2050-335T>C
XM_024451518.1:c.946-335T>C	XP_024307286.1:n.946-335T>C
NM_000528.4:c.2047-335T>C MANE Select	NP_000519.2:n.2047-335T>C
NM_001173498.2:c.2044-335T>C	NP_001166969.1:n.2044-335T>C