Canonical Allele Identifier: CA9226726

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 712406
• ClinVar RCV Id: RCV000884354 ; RCV003955875
• dbSNP Id: rs3745650
• ExAC: 19:12774532 C / A
• gnomAD v2: 19-12774532-C-A
• gnomAD v3: 19-12663718-C-A
• gnomAD v4: 19-12663718-C-A
• COSMIC: COSM3680785
• MyVariant Identifiers: chr19:g.12774532C>A (hg19) ; chr19:g.12663718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663718C>A , CM000681.2:g.12663718C>A	GRCh38
NC_000019.9:g.12774532C>A , CM000681.1:g.12774532C>A	GRCh37
NC_000019.8:g.12635532C>A	NCBI36
NG_008318.1:g.8060G>T
NG_015814.1:g.1915C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.748G>T MANE Select	ENSP00000395473.2:p.Ala250Ser
ENST00000221363.8:c.748G>T	ENSP00000221363.4:p.Ala250Ser
ENST00000456935.6:c.748G>T	ENSP00000395473.2:p.Ala250Ser
ENST00000466794.5:n.730G>T
ENST00000486847.2:c.451G>T	ENSP00000470174.1:p.Ala151Ser
NM_000528.3:c.748G>T	NP_000519.2:p.Ala250Ser
NM_001173498.1:c.748G>T	NP_001166969.1:p.Ala250Ser
XM_005259913.1:c.748G>T	XP_005259970.1:p.Ala250Ser
XM_005259913.2:c.748G>T	XP_005259970.1:p.Ala250Ser
XM_024451518.1:c.-271G>T	XP_024307286.1:n.-271G>T
NM_000528.4:c.748G>T MANE Select	NP_000519.2:p.Ala250Ser
NM_001173498.2:c.748G>T	NP_001166969.1:p.Ala250Ser