Canonical Allele Identifier: CA9226778

Gene: MAN2B1

Linked Data

• dbSNP Id: rs374641984
• ExAC: 19:12775648 G / T
• gnomAD v2: 19-12775648-G-T
• gnomAD v3: 19-12664834-G-T
• gnomAD v4: 19-12664834-G-T
• MyVariant Identifiers: chr19:g.12775648G>T (hg19) ; chr19:g.12664834G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664834G>T , CM000681.2:g.12664834G>T	GRCh38
NC_000019.9:g.12775648G>T , CM000681.1:g.12775648G>T	GRCh37
NC_000019.8:g.12636648G>T	NCBI36
NG_008318.1:g.6944C>A
NG_015814.1:g.3031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.588C>A MANE Select	ENSP00000395473.2:p.Asp196Glu
ENST00000221363.8:c.588C>A	ENSP00000221363.4:p.Asp196Glu
ENST00000456935.6:c.588C>A	ENSP00000395473.2:p.Asp196Glu
ENST00000466794.5:n.570C>A
ENST00000486847.2:c.333+518C>A	ENSP00000470174.1:n.333+518C>A
ENST00000596512.5:n.526C>A
ENST00000597961.1:c.579C>A	ENSP00000472710.1:p.Asp193Glu
NM_000528.3:c.588C>A	NP_000519.2:p.Asp196Glu
NM_001173498.1:c.588C>A	NP_001166969.1:p.Asp196Glu
XM_005259913.1:c.588C>A	XP_005259970.1:p.Asp196Glu
XM_005259913.2:c.588C>A	XP_005259970.1:p.Asp196Glu
XM_024451518.1:c.-431C>A	XP_024307286.1:n.-431C>A
NM_000528.4:c.588C>A MANE Select	NP_000519.2:p.Asp196Glu
NM_001173498.2:c.588C>A	NP_001166969.1:p.Asp196Glu