Canonical Allele Identifier: CA404243603

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650204-C-A
• MyVariant Identifiers: chr19:g.12761018C>A (hg19) ; chr19:g.12650204C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650204C>A , CM000681.2:g.12650204C>A	GRCh38
NC_000019.9:g.12761018C>A , CM000681.1:g.12761018C>A	GRCh37
NC_000019.8:g.12622018C>A	NCBI36
NG_008318.1:g.21574G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2065G>T MANE Select	ENSP00000395473.2:p.Val689Leu
ENST00000221363.8:c.2062G>T	ENSP00000221363.4:p.Val688Leu
ENST00000456935.6:c.2065G>T	ENSP00000395473.2:p.Val689Leu
ENST00000466794.5:n.2655G>T
NM_000528.3:c.2065G>T	NP_000519.2:p.Val689Leu
NM_001173498.1:c.2062G>T	NP_001166969.1:p.Val688Leu
XM_005259913.1:c.2068G>T	XP_005259970.1:p.Val690Leu
XM_011528017.1:c.964G>T	XP_011526319.1:p.Val322Leu
XM_005259913.2:c.2068G>T	XP_005259970.1:p.Val690Leu
XM_024451518.1:c.964G>T	XP_024307286.1:p.Val322Leu
NM_000528.4:c.2065G>T MANE Select	NP_000519.2:p.Val689Leu
NM_001173498.2:c.2062G>T	NP_001166969.1:p.Val688Leu