Canonical Allele Identifier: CA2504487732

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658417T>G , CM000681.2:g.12658417T>G	GRCh38
NC_000019.9:g.12769231T>G , CM000681.1:g.12769231T>G	GRCh37
NC_000019.8:g.12630231T>G	NCBI36
NG_008318.1:g.13361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1109+11A>C MANE Select	ENSP00000395473.2:n.1109+11A>C
ENST00000221363.8:c.1106+11A>C	ENSP00000221363.4:n.1106+11A>C
ENST00000456935.6:c.1109+11A>C	ENSP00000395473.2:n.1109+11A>C
ENST00000465830.1:n.201A>C
ENST00000466794.5:n.1009-73A>C
ENST00000495617.1:n.280+314A>C
NM_000528.3:c.1109+11A>C	NP_000519.2:n.1109+11A>C
NM_001173498.1:c.1106+11A>C	NP_001166969.1:n.1106+11A>C
XM_005259913.1:c.1112+11A>C	XP_005259970.1:n.1112+11A>C
XM_011528017.1:c.9-73A>C	XP_011526319.1:n.9-73A>C
XM_005259913.2:c.1112+11A>C	XP_005259970.1:n.1112+11A>C
XM_024451518.1:c.9-73A>C	XP_024307286.1:n.9-73A>C
NM_000528.4:c.1109+11A>C MANE Select	NP_000519.2:n.1109+11A>C
NM_001173498.2:c.1106+11A>C	NP_001166969.1:n.1106+11A>C