Canonical Allele Identifier: CA404237662

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758265T>A (hg19) ; chr19:g.12647451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647451T>A , CM000681.2:g.12647451T>A	GRCh38
NC_000019.9:g.12758265T>A , CM000681.1:g.12758265T>A	GRCh37
NC_000019.8:g.12619265T>A	NCBI36
NG_008318.1:g.24327A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2812A>T MANE Select	ENSP00000395473.2:p.Asn938Tyr
ENST00000221363.8:c.2809A>T	ENSP00000221363.4:p.Asn937Tyr
ENST00000456935.6:c.2812A>T	ENSP00000395473.2:p.Asn938Tyr
ENST00000466794.5:n.3402A>T
ENST00000469423.1:n.134A>T
ENST00000493218.5:n.223A>T
ENST00000597692.1:c.371A>T
NM_000528.3:c.2812A>T	NP_000519.2:p.Asn938Tyr
NM_001173498.1:c.2809A>T	NP_001166969.1:p.Asn937Tyr
XM_005259913.1:c.2815A>T	XP_005259970.1:p.Asn939Tyr
XM_011528017.1:c.1711A>T	XP_011526319.1:p.Asn571Tyr
XM_005259913.2:c.2815A>T	XP_005259970.1:p.Asn939Tyr
XM_024451518.1:c.1711A>T	XP_024307286.1:p.Asn571Tyr
NM_000528.4:c.2812A>T MANE Select	NP_000519.2:p.Asn938Tyr
NM_001173498.2:c.2809A>T	NP_001166969.1:p.Asn937Tyr