Canonical Allele Identifier: CA305478724

Gene: MAN2B1

Linked Data

• dbSNP Id: rs34556863
• MyVariant Identifiers: chr19:g.12775965_12775966insT (hg19) ; chr19:g.12665151_12665152insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665151_12665152insT , CM000681.2:g.12665151_12665152insT	GRCh38
NC_000019.9:g.12775965_12775966insT , CM000681.1:g.12775965_12775966insT	GRCh37
NC_000019.8:g.12636965_12636966insT	NCBI36
NG_008318.1:g.6626_6627insA
NG_015814.1:g.3348_3349insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.437-167_437-166insA MANE Select	ENSP00000395473.2:n.437-167_437-166insA
ENST00000221363.8:c.437-167_437-166insA	ENSP00000221363.4:n.437-167_437-166insA
ENST00000456935.6:c.437-167_437-166insA	ENSP00000395473.2:n.437-167_437-166insA
ENST00000466794.5:n.419-167_419-166insA
ENST00000486847.2:c.333+200_333+201insA	ENSP00000470174.1:n.333+200_333+201insA
ENST00000596512.5:n.375-167_375-166insA
ENST00000597961.1:c.428-167_428-166insA	ENSP00000472710.1:n.428-167_428-166insA
ENST00000598876.1:c.464-167_464-166insA	ENSP00000470533.1:n.464-167_464-166insA
NM_000528.3:c.437-167_437-166insA	NP_000519.2:n.437-167_437-166insA
NM_001173498.1:c.437-167_437-166insA	NP_001166969.1:n.437-167_437-166insA
XM_005259913.1:c.437-167_437-166insA	XP_005259970.1:n.437-167_437-166insA
XM_005259913.2:c.437-167_437-166insA	XP_005259970.1:n.437-167_437-166insA
XM_024451518.1:c.-582-167_-582-166insA	XP_024307286.1:n.-582-167_-582-166insA
NM_000528.4:c.437-167_437-166insA MANE Select	NP_000519.2:n.437-167_437-166insA
NM_001173498.2:c.437-167_437-166insA	NP_001166969.1:n.437-167_437-166insA