Canonical Allele Identifier: CA993665978

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12650489-G-GAGGGA
• gnomAD v4: 19-12650489-G-GAGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650489_12650490insAGGGA , CM000681.2:g.12650489_12650490insAGGGA	GRCh38
NC_000019.9:g.12761303_12761304insAGGGA , CM000681.1:g.12761303_12761304insAGGGA	GRCh37
NC_000019.8:g.12622303_12622304insAGGGA	NCBI36
NG_008318.1:g.21288_21289insTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-268_2047-267insTCCCT MANE Select	ENSP00000395473.2:n.2047-268_2047-267insTCCCT
ENST00000221363.8:c.2044-268_2044-267insTCCCT	ENSP00000221363.4:n.2044-268_2044-267insTCCCT
ENST00000456935.6:c.2047-268_2047-267insTCCCT	ENSP00000395473.2:n.2047-268_2047-267insTCCCT
ENST00000466794.5:n.2637-268_2637-267insTCCCT
NM_000528.3:c.2047-268_2047-267insTCCCT	NP_000519.2:n.2047-268_2047-267insTCCCT
NM_001173498.1:c.2044-268_2044-267insTCCCT	NP_001166969.1:n.2044-268_2044-267insTCCCT
XM_005259913.1:c.2050-268_2050-267insTCCCT	XP_005259970.1:n.2050-268_2050-267insTCCCT
XM_011528017.1:c.946-268_946-267insTCCCT	XP_011526319.1:n.946-268_946-267insTCCCT
XM_005259913.2:c.2050-268_2050-267insTCCCT	XP_005259970.1:n.2050-268_2050-267insTCCCT
XM_024451518.1:c.946-268_946-267insTCCCT	XP_024307286.1:n.946-268_946-267insTCCCT
NM_000528.4:c.2047-268_2047-267insTCCCT MANE Select	NP_000519.2:n.2047-268_2047-267insTCCCT
NM_001173498.2:c.2044-268_2044-267insTCCCT	NP_001166969.1:n.2044-268_2044-267insTCCCT