Canonical Allele Identifier: CA9225904

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2895472
• ClinVar RCV Id: RCV003601021
• dbSNP Id: rs370579499
• ExAC: 19:12758165 T / G
• gnomAD v2: 19-12758165-T-G
• gnomAD v3: 19-12647351-T-G
• gnomAD v4: 19-12647351-T-G
• MyVariant Identifiers: chr19:g.12758165T>G (hg19) ; chr19:g.12647351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647351T>G , CM000681.2:g.12647351T>G	GRCh38
NC_000019.9:g.12758165T>G , CM000681.1:g.12758165T>G	GRCh37
NC_000019.8:g.12619165T>G	NCBI36
NG_008318.1:g.24427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2821-16A>C MANE Select	ENSP00000395473.2:n.2821-16A>C
ENST00000221363.8:c.2818-16A>C	ENSP00000221363.4:n.2818-16A>C
ENST00000456935.6:c.2821-16A>C	ENSP00000395473.2:n.2821-16A>C
ENST00000466794.5:n.3411-16A>C
ENST00000469423.1:n.234A>C
ENST00000493218.5:n.232-16A>C
ENST00000597692.1:c.380-16A>C
NM_000528.3:c.2821-16A>C	NP_000519.2:n.2821-16A>C
NM_001173498.1:c.2818-16A>C	NP_001166969.1:n.2818-16A>C
XM_005259913.1:c.2824-16A>C	XP_005259970.1:n.2824-16A>C
XM_011528017.1:c.1720-16A>C	XP_011526319.1:n.1720-16A>C
XM_005259913.2:c.2824-16A>C	XP_005259970.1:n.2824-16A>C
XM_024451518.1:c.1720-16A>C	XP_024307286.1:n.1720-16A>C
NM_000528.4:c.2821-16A>C MANE Select	NP_000519.2:n.2821-16A>C
NM_001173498.2:c.2818-16A>C	NP_001166969.1:n.2818-16A>C