Canonical Allele Identifier: CA631832638

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1390531482
• gnomAD v2: 19-12760036-A-AACAT
• gnomAD v4: 19-12649222-A-AACAT
• MyVariant Identifiers: chr19:g.12760036_12760037insACAT (hg19) ; chr19:g.12649222_12649223insACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649222_12649223insACAT , CM000681.2:g.12649222_12649223insACAT	GRCh38
NC_000019.9:g.12760036_12760037insACAT , CM000681.1:g.12760036_12760037insACAT	GRCh37
NC_000019.8:g.12621036_12621037insACAT	NCBI36
NG_008318.1:g.22555_22556insATGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2356-7_2356-6insATGT MANE Select	ENSP00000395473.2:n.2356-7_2356-6insATGT
ENST00000221363.8:c.2353-7_2353-6insATGT	ENSP00000221363.4:n.2353-7_2353-6insATGT
ENST00000456935.6:c.2356-7_2356-6insATGT	ENSP00000395473.2:n.2356-7_2356-6insATGT
ENST00000466794.5:n.2946-7_2946-6insATGT
NM_000528.3:c.2356-7_2356-6insATGT	NP_000519.2:n.2356-7_2356-6insATGT
NM_001173498.1:c.2353-7_2353-6insATGT	NP_001166969.1:n.2353-7_2353-6insATGT
XM_005259913.1:c.2359-7_2359-6insATGT	XP_005259970.1:n.2359-7_2359-6insATGT
XM_011528017.1:c.1255-7_1255-6insATGT	XP_011526319.1:n.1255-7_1255-6insATGT
XM_005259913.2:c.2359-7_2359-6insATGT	XP_005259970.1:n.2359-7_2359-6insATGT
XM_024451518.1:c.1255-7_1255-6insATGT	XP_024307286.1:n.1255-7_1255-6insATGT
NM_000528.4:c.2356-7_2356-6insATGT MANE Select	NP_000519.2:n.2356-7_2356-6insATGT
NM_001173498.2:c.2353-7_2353-6insATGT	NP_001166969.1:n.2353-7_2353-6insATGT