Canonical Allele Identifier: CA2573156080

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1457345
• ClinVar RCV Id: RCV001953714
• dbSNP Id: rs2145286437

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664791_12664795dup , CM000681.2:g.12664791_12664795dup	GRCh38
NC_000019.9:g.12775605_12775609dup , CM000681.1:g.12775605_12775609dup	GRCh37
NC_000019.8:g.12636605_12636609dup	NCBI36
NG_008318.1:g.6983_6987dup
NG_015814.1:g.2988_2992dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.627_630+1dup
ENST00000221363.8:c.627_630+1dup
ENST00000456935.6:c.627_630+1dup
ENST00000466794.5:n.609_612+1dup
ENST00000486847.2:c.333+557_333+561dup	ENSP00000470174.1:n.333+557_333+561dup
NM_000528.3:c.627_630+1dup
NM_001173498.1:c.627_630+1dup
XM_005259913.1:c.627_630+1dup
XM_005259913.2:c.627_630+1dup
XM_024451518.1:c.-392_-389+1dup
NM_000528.4:c.627_630+1dup
NM_001173498.2:c.627_630+1dup