Canonical Allele Identifier: CA404246533

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657055-A-G
• MyVariant Identifiers: chr19:g.12767869A>G (hg19) ; chr19:g.12657055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657055A>G , CM000681.2:g.12657055A>G	GRCh38
NC_000019.9:g.12767869A>G , CM000681.1:g.12767869A>G	GRCh37
NC_000019.8:g.12628869A>G	NCBI36
NG_008318.1:g.14723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1421T>C MANE Select	ENSP00000395473.2:p.Val474Ala
ENST00000221363.8:c.1418T>C	ENSP00000221363.4:p.Val473Ala
ENST00000433513.5:n.27T>C
ENST00000456935.6:c.1421T>C	ENSP00000395473.2:p.Val474Ala
ENST00000466794.5:n.1320T>C
ENST00000495617.1:n.597T>C
ENST00000593686.1:c.31T>C
ENST00000595880.5:n.18T>C
NM_000528.3:c.1421T>C	NP_000519.2:p.Val474Ala
NM_001173498.1:c.1418T>C	NP_001166969.1:p.Val473Ala
XM_005259913.1:c.1424T>C	XP_005259970.1:p.Val475Ala
XM_011528017.1:c.320T>C	XP_011526319.1:p.Val107Ala
XM_005259913.2:c.1424T>C	XP_005259970.1:p.Val475Ala
XM_024451518.1:c.320T>C	XP_024307286.1:p.Val107Ala
NM_000528.4:c.1421T>C MANE Select	NP_000519.2:p.Val474Ala
NM_001173498.2:c.1418T>C	NP_001166969.1:p.Val473Ala