Canonical Allele Identifier: CA993665941

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12650378-A-ATTT
• gnomAD v4: 19-12650378-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650378_12650379insTTT , CM000681.2:g.12650378_12650379insTTT	GRCh38
NC_000019.9:g.12761192_12761193insTTT , CM000681.1:g.12761192_12761193insTTT	GRCh37
NC_000019.8:g.12622192_12622193insTTT	NCBI36
NG_008318.1:g.21399_21400insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-157_2047-156insAAA MANE Select	ENSP00000395473.2:n.2047-157_2047-156insAAA
ENST00000221363.8:c.2044-157_2044-156insAAA	ENSP00000221363.4:n.2044-157_2044-156insAAA
ENST00000456935.6:c.2047-157_2047-156insAAA	ENSP00000395473.2:n.2047-157_2047-156insAAA
ENST00000466794.5:n.2637-157_2637-156insAAA
NM_000528.3:c.2047-157_2047-156insAAA	NP_000519.2:n.2047-157_2047-156insAAA
NM_001173498.1:c.2044-157_2044-156insAAA	NP_001166969.1:n.2044-157_2044-156insAAA
XM_005259913.1:c.2050-157_2050-156insAAA	XP_005259970.1:n.2050-157_2050-156insAAA
XM_011528017.1:c.946-157_946-156insAAA	XP_011526319.1:n.946-157_946-156insAAA
XM_005259913.2:c.2050-157_2050-156insAAA	XP_005259970.1:n.2050-157_2050-156insAAA
XM_024451518.1:c.946-157_946-156insAAA	XP_024307286.1:n.946-157_946-156insAAA
NM_000528.4:c.2047-157_2047-156insAAA MANE Select	NP_000519.2:n.2047-157_2047-156insAAA
NM_001173498.2:c.2044-157_2044-156insAAA	NP_001166969.1:n.2044-157_2044-156insAAA