Canonical Allele Identifier: CA631833147

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1292495683
• gnomAD v2: 19-12761471-CCACATAAT-C
• gnomAD v3: 19-12650657-CCACATAAT-C
• gnomAD v4: 19-12650657-CCACATAAT-C
• MyVariant Identifiers: chr19:g.12761472_12761479del (hg19) ; chr19:g.12650658_12650665del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650658_12650665del , CM000681.2:g.12650658_12650665del	GRCh38
NC_000019.9:g.12761472_12761479del , CM000681.1:g.12761472_12761479del	GRCh37
NC_000019.8:g.12622472_12622479del	NCBI36
NG_008318.1:g.21113_21120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-443_2047-436del MANE Select	ENSP00000395473.2:n.2047-443_2047-436del
ENST00000221363.8:c.2044-443_2044-436del	ENSP00000221363.4:n.2044-443_2044-436del
ENST00000456935.6:c.2047-443_2047-436del	ENSP00000395473.2:n.2047-443_2047-436del
ENST00000466794.5:n.2637-443_2637-436del
NM_000528.3:c.2047-443_2047-436del	NP_000519.2:n.2047-443_2047-436del
NM_001173498.1:c.2044-443_2044-436del	NP_001166969.1:n.2044-443_2044-436del
XM_005259913.1:c.2050-443_2050-436del	XP_005259970.1:n.2050-443_2050-436del
XM_011528017.1:c.946-443_946-436del	XP_011526319.1:n.946-443_946-436del
XM_005259913.2:c.2050-443_2050-436del	XP_005259970.1:n.2050-443_2050-436del
XM_024451518.1:c.946-443_946-436del	XP_024307286.1:n.946-443_946-436del
NM_000528.4:c.2047-443_2047-436del MANE Select	NP_000519.2:n.2047-443_2047-436del
NM_001173498.2:c.2044-443_2044-436del	NP_001166969.1:n.2044-443_2044-436del