Canonical Allele Identifier: CA2576634846

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649118G>A , CM000681.2:g.12649118G>A	GRCh38
NC_000019.9:g.12759932G>A , CM000681.1:g.12759932G>A	GRCh37
NC_000019.8:g.12620932G>A	NCBI36
NG_008318.1:g.22660C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2436+18C>T MANE Select	ENSP00000395473.2:n.2436+18C>T
ENST00000221363.8:c.2433+18C>T	ENSP00000221363.4:n.2433+18C>T
ENST00000456935.6:c.2436+18C>T	ENSP00000395473.2:n.2436+18C>T
ENST00000466794.5:n.3026+18C>T
NM_000528.3:c.2436+18C>T	NP_000519.2:n.2436+18C>T
NM_001173498.1:c.2433+18C>T	NP_001166969.1:n.2433+18C>T
XM_005259913.1:c.2439+18C>T	XP_005259970.1:n.2439+18C>T
XM_011528017.1:c.1335+18C>T	XP_011526319.1:n.1335+18C>T
XM_005259913.2:c.2439+18C>T	XP_005259970.1:n.2439+18C>T
XM_024451518.1:c.1335+18C>T	XP_024307286.1:n.1335+18C>T
NM_000528.4:c.2436+18C>T MANE Select	NP_000519.2:n.2436+18C>T
NM_001173498.2:c.2433+18C>T	NP_001166969.1:n.2433+18C>T