Canonical Allele Identifier: CA404243330

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1490618243
• gnomAD v3: 19-12650156-G-C
• gnomAD v4: 19-12650156-G-C
• MyVariant Identifiers: chr19:g.12760970G>C (hg19) ; chr19:g.12650156G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650156G>C , CM000681.2:g.12650156G>C	GRCh38
NC_000019.9:g.12760970G>C , CM000681.1:g.12760970G>C	GRCh37
NC_000019.8:g.12621970G>C	NCBI36
NG_008318.1:g.21622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2113C>G MANE Select	ENSP00000395473.2:p.Pro705Ala
ENST00000221363.8:c.2110C>G	ENSP00000221363.4:p.Pro704Ala
ENST00000456935.6:c.2113C>G	ENSP00000395473.2:p.Pro705Ala
ENST00000466794.5:n.2703C>G
NM_000528.3:c.2113C>G	NP_000519.2:p.Pro705Ala
NM_001173498.1:c.2110C>G	NP_001166969.1:p.Pro704Ala
XM_005259913.1:c.2116C>G	XP_005259970.1:p.Pro706Ala
XM_011528017.1:c.1012C>G	XP_011526319.1:p.Pro338Ala
XM_005259913.2:c.2116C>G	XP_005259970.1:p.Pro706Ala
XM_024451518.1:c.1012C>G	XP_024307286.1:p.Pro338Ala
NM_000528.4:c.2113C>G MANE Select	NP_000519.2:p.Pro705Ala
NM_001173498.2:c.2110C>G	NP_001166969.1:p.Pro704Ala