Canonical Allele Identifier: CA505770857

Gene: MAN2B1

Linked Data

• dbSNP Id: rs917258626
• gnomAD v3: 19-12658064-G-A
• gnomAD v4: 19-12658064-G-A
• COSMIC: COSM6283062
• MyVariant Identifiers: chr19:g.12768878G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658064G>A , CM000681.2:g.12658064G>A	GRCh38
NC_000019.9:g.12768878G>A , CM000681.1:g.12768878G>A	GRCh37
NC_000019.8:g.12629878G>A	NCBI36
NG_008318.1:g.13714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1308C>T MANE Select	ENSP00000395473.2:p.Leu436=
ENST00000221363.8:c.1305C>T	ENSP00000221363.4:p.Leu435=
ENST00000456935.6:c.1308C>T	ENSP00000395473.2:p.Leu436=
ENST00000465830.1:n.472C>T
ENST00000466794.5:n.1207C>T
ENST00000495617.1:n.281-304C>T
NM_000528.3:c.1308C>T	NP_000519.2:p.Leu436=
NM_001173498.1:c.1305C>T	NP_001166969.1:p.Leu435=
XM_005259913.1:c.1311C>T	XP_005259970.1:p.Leu437=
XM_011528017.1:c.207C>T	XP_011526319.1:p.Leu69=
XM_005259913.2:c.1311C>T	XP_005259970.1:p.Leu437=
XM_024451518.1:c.207C>T	XP_024307286.1:p.Leu69=
NM_000528.4:c.1308C>T MANE Select	NP_000519.2:p.Leu436=
NM_001173498.2:c.1305C>T	NP_001166969.1:p.Leu435=