Canonical Allele Identifier: CA404237550

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647328-A-G
• MyVariant Identifiers: chr19:g.12758142A>G (hg19) ; chr19:g.12647328A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647328A>G , CM000681.2:g.12647328A>G	GRCh38
NC_000019.9:g.12758142A>G , CM000681.1:g.12758142A>G	GRCh37
NC_000019.8:g.12619142A>G	NCBI36
NG_008318.1:g.24450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2828T>C MANE Select	ENSP00000395473.2:p.Phe943Ser
ENST00000221363.8:c.2825T>C	ENSP00000221363.4:p.Phe942Ser
ENST00000456935.6:c.2828T>C	ENSP00000395473.2:p.Phe943Ser
ENST00000466794.5:n.3418T>C
ENST00000469423.1:n.257T>C
ENST00000493218.5:n.239T>C
ENST00000597692.1:c.387T>C
NM_000528.3:c.2828T>C	NP_000519.2:p.Phe943Ser
NM_001173498.1:c.2825T>C	NP_001166969.1:p.Phe942Ser
XM_005259913.1:c.2831T>C	XP_005259970.1:p.Phe944Ser
XM_011528017.1:c.1727T>C	XP_011526319.1:p.Phe576Ser
XM_005259913.2:c.2831T>C	XP_005259970.1:p.Phe944Ser
XM_024451518.1:c.1727T>C	XP_024307286.1:p.Phe576Ser
NM_000528.4:c.2828T>C MANE Select	NP_000519.2:p.Phe943Ser
NM_001173498.2:c.2825T>C	NP_001166969.1:p.Phe942Ser