Canonical Allele Identifier: CA631834917

Gene: MAN2B1

Linked Data

• dbSNP Id: rs774677014
• gnomAD v2: 19-12767724-C-A
• gnomAD v4: 19-12656910-C-A
• MyVariant Identifiers: chr19:g.12767724C>A (hg19) ; chr19:g.12656910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656910C>A , CM000681.2:g.12656910C>A	GRCh38
NC_000019.9:g.12767724C>A , CM000681.1:g.12767724C>A	GRCh37
NC_000019.8:g.12628724C>A	NCBI36
NG_008318.1:g.14868G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1527+39G>T MANE Select	ENSP00000395473.2:n.1527+39G>T
ENST00000221363.8:c.1524+39G>T	ENSP00000221363.4:n.1524+39G>T
ENST00000433513.5:n.133+39G>T
ENST00000456935.6:c.1527+39G>T	ENSP00000395473.2:n.1527+39G>T
ENST00000466794.5:n.1426+39G>T
ENST00000495617.1:n.703+39G>T
ENST00000593686.1:c.137+39G>T
ENST00000595880.5:n.124+39G>T
NM_000528.3:c.1527+39G>T	NP_000519.2:n.1527+39G>T
NM_001173498.1:c.1524+39G>T	NP_001166969.1:n.1524+39G>T
XM_005259913.1:c.1530+39G>T	XP_005259970.1:n.1530+39G>T
XM_011528017.1:c.426+39G>T	XP_011526319.1:n.426+39G>T
XM_005259913.2:c.1530+39G>T	XP_005259970.1:n.1530+39G>T
XM_024451518.1:c.426+39G>T	XP_024307286.1:n.426+39G>T
NM_000528.4:c.1527+39G>T MANE Select	NP_000519.2:n.1527+39G>T
NM_001173498.2:c.1524+39G>T	NP_001166969.1:n.1524+39G>T