Canonical Allele Identifier: CA305463135

Gene: MAN2B1

Linked Data

• dbSNP Id: rs543944689
• gnomAD v2: 19-12761138-T-TCAG
• gnomAD v3: 19-12650324-T-TCAG
• gnomAD v4: 19-12650324-T-TCAG
• MyVariant Identifiers: chr19:g.12761138_12761139insCAG (hg19) ; chr19:g.12650324_12650325insCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650326_12650327insGCA , CM000681.2:g.12650326_12650327insGCA	GRCh38
NC_000019.9:g.12761140_12761141insGCA , CM000681.1:g.12761140_12761141insGCA	GRCh37
NC_000019.8:g.12622140_12622141insGCA	NCBI36
NG_008318.1:g.21453_21454insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-103_2047-102insCTG MANE Select	ENSP00000395473.2:n.2047-103_2047-102insCTG
ENST00000221363.8:c.2044-103_2044-102insCTG	ENSP00000221363.4:n.2044-103_2044-102insCTG
ENST00000456935.6:c.2047-103_2047-102insCTG	ENSP00000395473.2:n.2047-103_2047-102insCTG
ENST00000466794.5:n.2637-103_2637-102insCTG
NM_000528.3:c.2047-103_2047-102insCTG	NP_000519.2:n.2047-103_2047-102insCTG
NM_001173498.1:c.2044-103_2044-102insCTG	NP_001166969.1:n.2044-103_2044-102insCTG
XM_005259913.1:c.2050-103_2050-102insCTG	XP_005259970.1:n.2050-103_2050-102insCTG
XM_011528017.1:c.946-103_946-102insCTG	XP_011526319.1:n.946-103_946-102insCTG
XM_005259913.2:c.2050-103_2050-102insCTG	XP_005259970.1:n.2050-103_2050-102insCTG
XM_024451518.1:c.946-103_946-102insCTG	XP_024307286.1:n.946-103_946-102insCTG
NM_000528.4:c.2047-103_2047-102insCTG MANE Select	NP_000519.2:n.2047-103_2047-102insCTG
NM_001173498.2:c.2044-103_2044-102insCTG	NP_001166969.1:n.2044-103_2044-102insCTG