Canonical Allele Identifier: CA305462926

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1978956
• ClinVar RCV Id: RCV002775186
• dbSNP Id: rs955787667
• gnomAD v2: 19-12760939-G-A
• gnomAD v4: 19-12650125-G-A
• MyVariant Identifiers: chr19:g.12760939G>A (hg19) ; chr19:g.12650125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650125G>A , CM000681.2:g.12650125G>A	GRCh38
NC_000019.9:g.12760939G>A , CM000681.1:g.12760939G>A	GRCh37
NC_000019.8:g.12621939G>A	NCBI36
NG_008318.1:g.21653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2144C>T MANE Select	ENSP00000395473.2:p.Ser715Leu
ENST00000221363.8:c.2141C>T	ENSP00000221363.4:p.Ser714Leu
ENST00000456935.6:c.2144C>T	ENSP00000395473.2:p.Ser715Leu
ENST00000466794.5:n.2734C>T
NM_000528.3:c.2144C>T	NP_000519.2:p.Ser715Leu
NM_001173498.1:c.2141C>T	NP_001166969.1:p.Ser714Leu
XM_005259913.1:c.2147C>T	XP_005259970.1:p.Ser716Leu
XM_011528017.1:c.1043C>T	XP_011526319.1:p.Ser348Leu
XM_005259913.2:c.2147C>T	XP_005259970.1:p.Ser716Leu
XM_024451518.1:c.1043C>T	XP_024307286.1:p.Ser348Leu
NM_000528.4:c.2144C>T MANE Select	NP_000519.2:p.Ser715Leu
NM_001173498.2:c.2141C>T	NP_001166969.1:p.Ser714Leu