Canonical Allele Identifier: CA2517454539

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657159-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657159A>C , CM000681.2:g.12657159A>C	GRCh38
NC_000019.9:g.12767973A>C , CM000681.1:g.12767973A>C	GRCh37
NC_000019.8:g.12628973A>C	NCBI36
NG_008318.1:g.14619T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-103T>G MANE Select	ENSP00000395473.2:n.1420-103T>G
ENST00000221363.8:c.1417-103T>G	ENSP00000221363.4:n.1417-103T>G
ENST00000433513.5:n.25+52T>G
ENST00000456935.6:c.1420-103T>G	ENSP00000395473.2:n.1420-103T>G
ENST00000466794.5:n.1319-103T>G
ENST00000495617.1:n.596-103T>G
ENST00000593686.1:c.30-103T>G
ENST00000595880.5:n.17-103T>G
NM_000528.3:c.1420-103T>G	NP_000519.2:n.1420-103T>G
NM_001173498.1:c.1417-103T>G	NP_001166969.1:n.1417-103T>G
XM_005259913.1:c.1423-103T>G	XP_005259970.1:n.1423-103T>G
XM_011528017.1:c.319-103T>G	XP_011526319.1:n.319-103T>G
XM_005259913.2:c.1423-103T>G	XP_005259970.1:n.1423-103T>G
XM_024451518.1:c.319-103T>G	XP_024307286.1:n.319-103T>G
NM_000528.4:c.1420-103T>G MANE Select	NP_000519.2:n.1420-103T>G
NM_001173498.2:c.1417-103T>G	NP_001166969.1:n.1417-103T>G