Canonical Allele Identifier: CA404255872

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1343803488
• gnomAD v2: 19-12776177-A-G
• gnomAD v4: 19-12665363-A-G
• MyVariant Identifiers: chr19:g.12776177A>G (hg19) ; chr19:g.12665363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665363A>G , CM000681.2:g.12665363A>G	GRCh38
NC_000019.9:g.12776177A>G , CM000681.1:g.12776177A>G	GRCh37
NC_000019.8:g.12637177A>G	NCBI36
NG_008318.1:g.6415T>C
NG_015814.1:g.3560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.425T>C MANE Select	ENSP00000395473.2:p.Leu142Pro
ENST00000221363.8:c.425T>C	ENSP00000221363.4:p.Leu142Pro
ENST00000456935.6:c.425T>C	ENSP00000395473.2:p.Leu142Pro
ENST00000466794.5:n.407T>C
ENST00000486847.2:c.322T>C	ENSP00000470174.1:p.Leu108=
ENST00000596512.5:n.363T>C
ENST00000597961.1:c.416T>C	ENSP00000472710.1:p.Leu139Pro
ENST00000598876.1:c.452T>C	ENSP00000470533.1:p.Leu151Pro
ENST00000600281.1:n.466T>C
NM_000528.3:c.425T>C	NP_000519.2:p.Leu142Pro
NM_001173498.1:c.425T>C	NP_001166969.1:p.Leu142Pro
XM_005259913.1:c.425T>C	XP_005259970.1:p.Leu142Pro
XM_005259913.2:c.425T>C	XP_005259970.1:p.Leu142Pro
XM_024451518.1:c.-594T>C	XP_024307286.1:n.-594T>C
NM_000528.4:c.425T>C MANE Select	NP_000519.2:p.Leu142Pro
NM_001173498.2:c.425T>C	NP_001166969.1:p.Leu142Pro