Canonical Allele Identifier: CA404243458

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760993C>G (hg19) ; chr19:g.12650179C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650179C>G , CM000681.2:g.12650179C>G	GRCh38
NC_000019.9:g.12760993C>G , CM000681.1:g.12760993C>G	GRCh37
NC_000019.8:g.12621993C>G	NCBI36
NG_008318.1:g.21599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2090G>C MANE Select	ENSP00000395473.2:p.Cys697Ser
ENST00000221363.8:c.2087G>C	ENSP00000221363.4:p.Cys696Ser
ENST00000456935.6:c.2090G>C	ENSP00000395473.2:p.Cys697Ser
ENST00000466794.5:n.2680G>C
NM_000528.3:c.2090G>C	NP_000519.2:p.Cys697Ser
NM_001173498.1:c.2087G>C	NP_001166969.1:p.Cys696Ser
XM_005259913.1:c.2093G>C	XP_005259970.1:p.Cys698Ser
XM_011528017.1:c.989G>C	XP_011526319.1:p.Cys330Ser
XM_005259913.2:c.2093G>C	XP_005259970.1:p.Cys698Ser
XM_024451518.1:c.989G>C	XP_024307286.1:p.Cys330Ser
NM_000528.4:c.2090G>C MANE Select	NP_000519.2:p.Cys697Ser
NM_001173498.2:c.2087G>C	NP_001166969.1:p.Cys696Ser