Canonical Allele Identifier: CA783353074

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1439274220
• gnomAD v4: 19-12663592-GTTCCCAGACTATAGGAA-G
• MyVariant Identifiers: chr19:g.12774407_12774423del (hg19) ; chr19:g.12663593_12663609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663597_12663613del , CM000681.2:g.12663597_12663613del	GRCh38
NC_000019.9:g.12774411_12774427del , CM000681.1:g.12774411_12774427del	GRCh37
NC_000019.8:g.12635411_12635427del	NCBI36
NG_008318.1:g.8169_8185del
NG_015814.1:g.1794_1810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.763+94_763+110del MANE Select	ENSP00000395473.2:n.763+94_763+110del
ENST00000221363.8:c.763+94_763+110del	ENSP00000221363.4:n.763+94_763+110del
ENST00000456935.6:c.763+94_763+110del	ENSP00000395473.2:n.763+94_763+110del
ENST00000466794.5:n.745+94_745+110del
ENST00000486847.2:c.466+94_466+110del	ENSP00000470174.1:n.466+94_466+110del
NM_000528.3:c.763+94_763+110del	NP_000519.2:n.763+94_763+110del
NM_001173498.1:c.763+94_763+110del	NP_001166969.1:n.763+94_763+110del
XM_005259913.1:c.763+94_763+110del	XP_005259970.1:n.763+94_763+110del
XM_005259913.2:c.763+94_763+110del	XP_005259970.1:n.763+94_763+110del
XM_024451518.1:c.-256+94_-256+110del	XP_024307286.1:n.-256+94_-256+110del
NM_000528.4:c.763+94_763+110del MANE Select	NP_000519.2:n.763+94_763+110del
NM_001173498.2:c.763+94_763+110del	NP_001166969.1:n.763+94_763+110del