Canonical Allele Identifier: CA404254779

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024189375
• gnomAD v4: 19-12664866-C-G
• MyVariant Identifiers: chr19:g.12775680C>G (hg19) ; chr19:g.12664866C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664866C>G , CM000681.2:g.12664866C>G	GRCh38
NC_000019.9:g.12775680C>G , CM000681.1:g.12775680C>G	GRCh37
NC_000019.8:g.12636680C>G	NCBI36
NG_008318.1:g.6912G>C
NG_015814.1:g.3063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.556G>C MANE Select	ENSP00000395473.2:p.Asp186His
ENST00000221363.8:c.556G>C	ENSP00000221363.4:p.Asp186His
ENST00000456935.6:c.556G>C	ENSP00000395473.2:p.Asp186His
ENST00000466794.5:n.538G>C
ENST00000486847.2:c.333+486G>C	ENSP00000470174.1:n.333+486G>C
ENST00000596512.5:n.494G>C
ENST00000597961.1:c.547G>C	ENSP00000472710.1:p.Asp183His
NM_000528.3:c.556G>C	NP_000519.2:p.Asp186His
NM_001173498.1:c.556G>C	NP_001166969.1:p.Asp186His
XM_005259913.1:c.556G>C	XP_005259970.1:p.Asp186His
XM_005259913.2:c.556G>C	XP_005259970.1:p.Asp186His
XM_024451518.1:c.-463G>C	XP_024307286.1:n.-463G>C
NM_000528.4:c.556G>C MANE Select	NP_000519.2:p.Asp186His
NM_001173498.2:c.556G>C	NP_001166969.1:p.Asp186His