Canonical Allele Identifier: CA404248364

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769141T>G (hg19) ; chr19:g.12658327T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658327T>G , CM000681.2:g.12658327T>G	GRCh38
NC_000019.9:g.12769141T>G , CM000681.1:g.12769141T>G	GRCh37
NC_000019.8:g.12630141T>G	NCBI36
NG_008318.1:g.13451A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1127A>C MANE Select	ENSP00000395473.2:p.Asp376Ala
ENST00000221363.8:c.1124A>C	ENSP00000221363.4:p.Asp375Ala
ENST00000456935.6:c.1127A>C	ENSP00000395473.2:p.Asp376Ala
ENST00000465830.1:n.291A>C
ENST00000466794.5:n.1026A>C
ENST00000495617.1:n.280+404A>C
NM_000528.3:c.1127A>C	NP_000519.2:p.Asp376Ala
NM_001173498.1:c.1124A>C	NP_001166969.1:p.Asp375Ala
XM_005259913.1:c.1130A>C	XP_005259970.1:p.Asp377Ala
XM_011528017.1:c.26A>C	XP_011526319.1:p.Asp9Ala
XM_005259913.2:c.1130A>C	XP_005259970.1:p.Asp377Ala
XM_024451518.1:c.26A>C	XP_024307286.1:p.Asp9Ala
NM_000528.4:c.1127A>C MANE Select	NP_000519.2:p.Asp376Ala
NM_001173498.2:c.1124A>C	NP_001166969.1:p.Asp375Ala