Canonical Allele Identifier: CA404238132

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1272182872
• gnomAD v2: 19-12758384-G-A
• gnomAD v4: 19-12647570-G-A
• MyVariant Identifiers: chr19:g.12758384G>A (hg19) ; chr19:g.12647570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647570G>A , CM000681.2:g.12647570G>A	GRCh38
NC_000019.9:g.12758384G>A , CM000681.1:g.12758384G>A	GRCh37
NC_000019.8:g.12619384G>A	NCBI36
NG_008318.1:g.24208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2693C>T MANE Select	ENSP00000395473.2:p.Pro898Leu
ENST00000221363.8:c.2690C>T	ENSP00000221363.4:p.Pro897Leu
ENST00000456935.6:c.2693C>T	ENSP00000395473.2:p.Pro898Leu
ENST00000466794.5:n.3283C>T
ENST00000469423.1:n.15C>T
ENST00000493218.5:n.104C>T
ENST00000597692.1:c.252C>T
NM_000528.3:c.2693C>T	NP_000519.2:p.Pro898Leu
NM_001173498.1:c.2690C>T	NP_001166969.1:p.Pro897Leu
XM_005259913.1:c.2696C>T	XP_005259970.1:p.Pro899Leu
XM_011528017.1:c.1592C>T	XP_011526319.1:p.Pro531Leu
XM_005259913.2:c.2696C>T	XP_005259970.1:p.Pro899Leu
XM_024451518.1:c.1592C>T	XP_024307286.1:p.Pro531Leu
NM_000528.4:c.2693C>T MANE Select	NP_000519.2:p.Pro898Leu
NM_001173498.2:c.2690C>T	NP_001166969.1:p.Pro897Leu