Canonical Allele Identifier: CA305460300

Gene: MAN2B1

Linked Data

• dbSNP Id: rs541712525
• gnomAD v3: 19-12647521-C-G
• gnomAD v4: 19-12647521-C-G
• MyVariant Identifiers: chr19:g.12758335C>G (hg19) ; chr19:g.12647521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647521C>G , CM000681.2:g.12647521C>G	GRCh38
NC_000019.9:g.12758335C>G , CM000681.1:g.12758335C>G	GRCh37
NC_000019.8:g.12619335C>G	NCBI36
NG_008318.1:g.24257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2742G>C MANE Select	ENSP00000395473.2:p.Leu914=
ENST00000221363.8:c.2739G>C	ENSP00000221363.4:p.Leu913=
ENST00000456935.6:c.2742G>C	ENSP00000395473.2:p.Leu914=
ENST00000466794.5:n.3332G>C
ENST00000469423.1:n.64G>C
ENST00000493218.5:n.153G>C
ENST00000597692.1:c.301G>C
NM_000528.3:c.2742G>C	NP_000519.2:p.Leu914=
NM_001173498.1:c.2739G>C	NP_001166969.1:p.Leu913=
XM_005259913.1:c.2745G>C	XP_005259970.1:p.Leu915=
XM_011528017.1:c.1641G>C	XP_011526319.1:p.Leu547=
XM_005259913.2:c.2745G>C	XP_005259970.1:p.Leu915=
XM_024451518.1:c.1641G>C	XP_024307286.1:p.Leu547=
NM_000528.4:c.2742G>C MANE Select	NP_000519.2:p.Leu914=
NM_001173498.2:c.2739G>C	NP_001166969.1:p.Leu913=