Canonical Allele Identifier: CA404252955

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774608T>G (hg19) ; chr19:g.12663794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663794T>G , CM000681.2:g.12663794T>G	GRCh38
NC_000019.9:g.12774608T>G , CM000681.1:g.12774608T>G	GRCh37
NC_000019.8:g.12635608T>G	NCBI36
NG_008318.1:g.7984A>C
NG_015814.1:g.1991T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.672A>C MANE Select	ENSP00000395473.2:p.Gln224His
ENST00000221363.8:c.672A>C	ENSP00000221363.4:p.Gln224His
ENST00000456935.6:c.672A>C	ENSP00000395473.2:p.Gln224His
ENST00000466794.5:n.654A>C
ENST00000486847.2:c.375A>C	ENSP00000470174.1:p.Gln125His
NM_000528.3:c.672A>C	NP_000519.2:p.Gln224His
NM_001173498.1:c.672A>C	NP_001166969.1:p.Gln224His
XM_005259913.1:c.672A>C	XP_005259970.1:p.Gln224His
XM_005259913.2:c.672A>C	XP_005259970.1:p.Gln224His
XM_024451518.1:c.-347A>C	XP_024307286.1:n.-347A>C
NM_000528.4:c.672A>C MANE Select	NP_000519.2:p.Gln224His
NM_001173498.2:c.672A>C	NP_001166969.1:p.Gln224His