Canonical Allele Identifier: CA404258494

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665777-A-G
• MyVariant Identifiers: chr19:g.12776591A>G (hg19) ; chr19:g.12665777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665777A>G , CM000681.2:g.12665777A>G	GRCh38
NC_000019.9:g.12776591A>G , CM000681.1:g.12776591A>G	GRCh37
NC_000019.8:g.12637591A>G	NCBI36
NG_008318.1:g.6001T>C
NG_015814.1:g.3974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.188T>C MANE Select	ENSP00000395473.2:p.Leu63Pro
ENST00000221363.8:c.188T>C	ENSP00000221363.4:p.Leu63Pro
ENST00000456935.6:c.188T>C	ENSP00000395473.2:p.Leu63Pro
ENST00000466794.5:n.170T>C
ENST00000486847.2:c.160-252T>C	ENSP00000470174.1:n.160-252T>C
ENST00000596512.5:n.201-252T>C
ENST00000597961.1:c.179T>C	ENSP00000472710.1:p.Leu60Pro
ENST00000598876.1:c.215T>C	ENSP00000470533.1:p.Leu72Pro
ENST00000600281.1:n.229T>C
NM_000528.3:c.188T>C	NP_000519.2:p.Leu63Pro
NM_001173498.1:c.188T>C	NP_001166969.1:p.Leu63Pro
XM_005259913.1:c.188T>C	XP_005259970.1:p.Leu63Pro
XM_005259913.2:c.188T>C	XP_005259970.1:p.Leu63Pro
XM_024451518.1:c.-831T>C	XP_024307286.1:n.-831T>C
NM_000528.4:c.188T>C MANE Select	NP_000519.2:p.Leu63Pro
NM_001173498.2:c.188T>C	NP_001166969.1:p.Leu63Pro