Canonical Allele Identifier: CA404246518

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1450049474
• gnomAD v3: 19-12657050-G-C
• gnomAD v4: 19-12657050-G-C
• MyVariant Identifiers: chr19:g.12767864G>C (hg19) ; chr19:g.12657050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657050G>C , CM000681.2:g.12657050G>C	GRCh38
NC_000019.9:g.12767864G>C , CM000681.1:g.12767864G>C	GRCh37
NC_000019.8:g.12628864G>C	NCBI36
NG_008318.1:g.14728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1426C>G MANE Select	ENSP00000395473.2:p.Leu476Val
ENST00000221363.8:c.1423C>G	ENSP00000221363.4:p.Leu475Val
ENST00000433513.5:n.32C>G
ENST00000456935.6:c.1426C>G	ENSP00000395473.2:p.Leu476Val
ENST00000466794.5:n.1325C>G
ENST00000495617.1:n.602C>G
ENST00000593686.1:c.36C>G
ENST00000595880.5:n.23C>G
NM_000528.3:c.1426C>G	NP_000519.2:p.Leu476Val
NM_001173498.1:c.1423C>G	NP_001166969.1:p.Leu475Val
XM_005259913.1:c.1429C>G	XP_005259970.1:p.Leu477Val
XM_011528017.1:c.325C>G	XP_011526319.1:p.Leu109Val
XM_005259913.2:c.1429C>G	XP_005259970.1:p.Leu477Val
XM_024451518.1:c.325C>G	XP_024307286.1:p.Leu109Val
NM_000528.4:c.1426C>G MANE Select	NP_000519.2:p.Leu476Val
NM_001173498.2:c.1423C>G	NP_001166969.1:p.Leu475Val