Canonical Allele Identifier: CA404255531

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775793A>G (hg19) ; chr19:g.12664979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664979A>G , CM000681.2:g.12664979A>G	GRCh38
NC_000019.9:g.12775793A>G , CM000681.1:g.12775793A>G	GRCh37
NC_000019.8:g.12636793A>G	NCBI36
NG_008318.1:g.6799T>C
NG_015814.1:g.3176A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.443T>C MANE Select	ENSP00000395473.2:p.Leu148Pro
ENST00000221363.8:c.443T>C	ENSP00000221363.4:p.Leu148Pro
ENST00000456935.6:c.443T>C	ENSP00000395473.2:p.Leu148Pro
ENST00000466794.5:n.425T>C
ENST00000486847.2:c.333+373T>C	ENSP00000470174.1:n.333+373T>C
ENST00000596512.5:n.381T>C
ENST00000597961.1:c.434T>C	ENSP00000472710.1:p.Leu145Pro
ENST00000598876.1:c.470T>C	ENSP00000470533.1:p.Leu157Pro
NM_000528.3:c.443T>C	NP_000519.2:p.Leu148Pro
NM_001173498.1:c.443T>C	NP_001166969.1:p.Leu148Pro
XM_005259913.1:c.443T>C	XP_005259970.1:p.Leu148Pro
XM_005259913.2:c.443T>C	XP_005259970.1:p.Leu148Pro
XM_024451518.1:c.-576T>C	XP_024307286.1:n.-576T>C
NM_000528.4:c.443T>C MANE Select	NP_000519.2:p.Leu148Pro
NM_001173498.2:c.443T>C	NP_001166969.1:p.Leu148Pro