Canonical Allele Identifier: CA404237915

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023718879
• MyVariant Identifiers: chr19:g.12758326C>G (hg19) ; chr19:g.12647512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647512C>G , CM000681.2:g.12647512C>G	GRCh38
NC_000019.9:g.12758326C>G , CM000681.1:g.12758326C>G	GRCh37
NC_000019.8:g.12619326C>G	NCBI36
NG_008318.1:g.24266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2751G>C MANE Select	ENSP00000395473.2:p.Leu917Phe
ENST00000221363.8:c.2748G>C	ENSP00000221363.4:p.Leu916Phe
ENST00000456935.6:c.2751G>C	ENSP00000395473.2:p.Leu917Phe
ENST00000466794.5:n.3341G>C
ENST00000469423.1:n.73G>C
ENST00000493218.5:n.162G>C
ENST00000597692.1:c.310G>C
NM_000528.3:c.2751G>C	NP_000519.2:p.Leu917Phe
NM_001173498.1:c.2748G>C	NP_001166969.1:p.Leu916Phe
XM_005259913.1:c.2754G>C	XP_005259970.1:p.Leu918Phe
XM_011528017.1:c.1650G>C	XP_011526319.1:p.Leu550Phe
XM_005259913.2:c.2754G>C	XP_005259970.1:p.Leu918Phe
XM_024451518.1:c.1650G>C	XP_024307286.1:p.Leu550Phe
NM_000528.4:c.2751G>C MANE Select	NP_000519.2:p.Leu917Phe
NM_001173498.2:c.2748G>C	NP_001166969.1:p.Leu916Phe