Canonical Allele Identifier: CA783348401

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1262524662
• gnomAD v4: 19-12657192-C-G
• MyVariant Identifiers: chr19:g.12768006C>G (hg19) ; chr19:g.12657192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657192C>G , CM000681.2:g.12657192C>G	GRCh38
NC_000019.9:g.12768006C>G , CM000681.1:g.12768006C>G	GRCh37
NC_000019.8:g.12629006C>G	NCBI36
NG_008318.1:g.14586G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-136G>C MANE Select	ENSP00000395473.2:n.1420-136G>C
ENST00000221363.8:c.1417-136G>C	ENSP00000221363.4:n.1417-136G>C
ENST00000433513.5:n.25+19G>C
ENST00000456935.6:c.1420-136G>C	ENSP00000395473.2:n.1420-136G>C
ENST00000466794.5:n.1319-136G>C
ENST00000495617.1:n.596-136G>C
ENST00000593686.1:c.30-136G>C
ENST00000595880.5:n.17-136G>C
NM_000528.3:c.1420-136G>C	NP_000519.2:n.1420-136G>C
NM_001173498.1:c.1417-136G>C	NP_001166969.1:n.1417-136G>C
XM_005259913.1:c.1423-136G>C	XP_005259970.1:n.1423-136G>C
XM_011528017.1:c.319-136G>C	XP_011526319.1:n.319-136G>C
XM_005259913.2:c.1423-136G>C	XP_005259970.1:n.1423-136G>C
XM_024451518.1:c.319-136G>C	XP_024307286.1:n.319-136G>C
NM_000528.4:c.1420-136G>C MANE Select	NP_000519.2:n.1420-136G>C
NM_001173498.2:c.1417-136G>C	NP_001166969.1:n.1417-136G>C