Canonical Allele Identifier: CA404243672

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650221-G-T
• MyVariant Identifiers: chr19:g.12761035G>T (hg19) ; chr19:g.12650221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650221G>T , CM000681.2:g.12650221G>T	GRCh38
NC_000019.9:g.12761035G>T , CM000681.1:g.12761035G>T	GRCh37
NC_000019.8:g.12622035G>T	NCBI36
NG_008318.1:g.21557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2048C>A MANE Select	ENSP00000395473.2:p.Thr683Lys
ENST00000221363.8:c.2045C>A	ENSP00000221363.4:p.Thr682Lys
ENST00000456935.6:c.2048C>A	ENSP00000395473.2:p.Thr683Lys
ENST00000466794.5:n.2638C>A
NM_000528.3:c.2048C>A	NP_000519.2:p.Thr683Lys
NM_001173498.1:c.2045C>A	NP_001166969.1:p.Thr682Lys
XM_005259913.1:c.2051C>A	XP_005259970.1:p.Thr684Lys
XM_011528017.1:c.947C>A	XP_011526319.1:p.Thr316Lys
XM_005259913.2:c.2051C>A	XP_005259970.1:p.Thr684Lys
XM_024451518.1:c.947C>A	XP_024307286.1:p.Thr316Lys
NM_000528.4:c.2048C>A MANE Select	NP_000519.2:p.Thr683Lys
NM_001173498.2:c.2045C>A	NP_001166969.1:p.Thr682Lys