Canonical Allele Identifier: CA9226189

Gene: MAN2B1

Linked Data

• dbSNP Id: rs771858783
• ExAC: 19:12760924 G / A
• gnomAD v2: 19-12760924-G-A
• MyVariant Identifiers: chr19:g.12760924G>A (hg19) ; chr19:g.12650110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650110G>A , CM000681.2:g.12650110G>A	GRCh38
NC_000019.9:g.12760924G>A , CM000681.1:g.12760924G>A	GRCh37
NC_000019.8:g.12621924G>A	NCBI36
NG_008318.1:g.21668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2159C>T MANE Select	ENSP00000395473.2:p.Pro720Leu
ENST00000221363.8:c.2156C>T	ENSP00000221363.4:p.Pro719Leu
ENST00000456935.6:c.2159C>T	ENSP00000395473.2:p.Pro720Leu
ENST00000466794.5:n.2749C>T
NM_000528.3:c.2159C>T	NP_000519.2:p.Pro720Leu
NM_001173498.1:c.2156C>T	NP_001166969.1:p.Pro719Leu
XM_005259913.1:c.2162C>T	XP_005259970.1:p.Pro721Leu
XM_011528017.1:c.1058C>T	XP_011526319.1:p.Pro353Leu
XM_005259913.2:c.2162C>T	XP_005259970.1:p.Pro721Leu
XM_024451518.1:c.1058C>T	XP_024307286.1:p.Pro353Leu
NM_000528.4:c.2159C>T MANE Select	NP_000519.2:p.Pro720Leu
NM_001173498.2:c.2156C>T	NP_001166969.1:p.Pro719Leu