Canonical Allele Identifier: CA9225997

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12648338G>A , CM000681.2:g.12648338G>A	GRCh38
NC_000019.9:g.12759152G>A , CM000681.1:g.12759152G>A	GRCh37
NC_000019.8:g.12620152G>A	NCBI36
NG_008318.1:g.23440C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2501C>T MANE Select	NP_000519.2:p.Ser834Leu
ENST00000456935.7:c.2501C>T MANE Select	ENSP00000395473.2:p.Ser834Leu
NM_000528.3:c.2501C>T	NP_000519.2:p.Ser834Leu
NM_001173498.1:c.2498C>T	NP_001166969.1:p.Ser833Leu
NM_001173498.2:c.2498C>T	NP_001166969.1:p.Ser833Leu
ENST00000221363.8:c.2498C>T	ENSP00000221363.4:p.Ser833Leu
ENST00000456935.6:c.2501C>T	ENSP00000395473.2:p.Ser834Leu
ENST00000466794.5:n.3091C>T
ENST00000597692.1:c.60C>T
XM_005259913.1:c.2504C>T	XP_005259970.1:p.Ser835Leu
XM_005259913.2:c.2504C>T	XP_005259970.1:p.Ser835Leu
XM_011528017.1:c.1400C>T	XP_011526319.1:p.Ser467Leu
XM_024451518.1:c.1400C>T	XP_024307286.1:p.Ser467Leu