Canonical Allele Identifier: CA505770786

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1402138601
• gnomAD v2: 19-12758364-G-A
• gnomAD v4: 19-12647550-G-A
• MyVariant Identifiers: chr19:g.12758364G>A (hg19) ; chr19:g.12647550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647550G>A , CM000681.2:g.12647550G>A	GRCh38
NC_000019.9:g.12758364G>A , CM000681.1:g.12758364G>A	GRCh37
NC_000019.8:g.12619364G>A	NCBI36
NG_008318.1:g.24228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2713C>T MANE Select	ENSP00000395473.2:p.Leu905=
ENST00000221363.8:c.2710C>T	ENSP00000221363.4:p.Leu904=
ENST00000456935.6:c.2713C>T	ENSP00000395473.2:p.Leu905=
ENST00000466794.5:n.3303C>T
ENST00000469423.1:n.35C>T
ENST00000493218.5:n.124C>T
ENST00000597692.1:c.272C>T
NM_000528.3:c.2713C>T	NP_000519.2:p.Leu905=
NM_001173498.1:c.2710C>T	NP_001166969.1:p.Leu904=
XM_005259913.1:c.2716C>T	XP_005259970.1:p.Leu906=
XM_011528017.1:c.1612C>T	XP_011526319.1:p.Leu538=
XM_005259913.2:c.2716C>T	XP_005259970.1:p.Leu906=
XM_024451518.1:c.1612C>T	XP_024307286.1:p.Leu538=
NM_000528.4:c.2713C>T MANE Select	NP_000519.2:p.Leu905=
NM_001173498.2:c.2710C>T	NP_001166969.1:p.Leu904=