Canonical Allele Identifier: CA404237965

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758341C>A (hg19) ; chr19:g.12647527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647527C>A , CM000681.2:g.12647527C>A	GRCh38
NC_000019.9:g.12758341C>A , CM000681.1:g.12758341C>A	GRCh37
NC_000019.8:g.12619341C>A	NCBI36
NG_008318.1:g.24251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2736G>T MANE Select	ENSP00000395473.2:p.Met912Ile
ENST00000221363.8:c.2733G>T	ENSP00000221363.4:p.Met911Ile
ENST00000456935.6:c.2736G>T	ENSP00000395473.2:p.Met912Ile
ENST00000466794.5:n.3326G>T
ENST00000469423.1:n.58G>T
ENST00000493218.5:n.147G>T
ENST00000597692.1:c.295G>T
NM_000528.3:c.2736G>T	NP_000519.2:p.Met912Ile
NM_001173498.1:c.2733G>T	NP_001166969.1:p.Met911Ile
XM_005259913.1:c.2739G>T	XP_005259970.1:p.Met913Ile
XM_011528017.1:c.1635G>T	XP_011526319.1:p.Met545Ile
XM_005259913.2:c.2739G>T	XP_005259970.1:p.Met913Ile
XM_024451518.1:c.1635G>T	XP_024307286.1:p.Met545Ile
NM_000528.4:c.2736G>T MANE Select	NP_000519.2:p.Met912Ile
NM_001173498.2:c.2733G>T	NP_001166969.1:p.Met911Ile