Canonical Allele Identifier: CA381652508

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1251550850
• gnomAD v2: 11-68703905-C-G
• gnomAD v4: 11-68936437-C-G
• MyVariant Identifiers: chr11:g.68703905C>G (hg19) ; chr11:g.68936437C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936437C>G , CM000673.2:g.68936437C>G	GRCh38
NC_000011.9:g.68703905C>G , CM000673.1:g.68703905C>G	GRCh37
NC_000011.8:g.68460481C>G	NCBI36
NG_007976.1:g.37587C>G , LRG_250:g.37587C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1957C>G MANE Select	ENSP00000255078.4:p.His653Asp
ENST00000674675.1:c.201C>G
ENST00000674878.1:c.201C>G
ENST00000674955.1:c.*674C>G	ENSP00000502463.1:n.*674C>G
ENST00000675118.1:c.1445C>G
ENST00000675389.1:n.232C>G
ENST00000675615.1:c.1957C>G	ENSP00000502413.1:p.His653Asp
ENST00000675648.1:n.1332C>G
ENST00000675916.1:c.201C>G
ENST00000676173.1:n.2702C>G
ENST00000676182.1:c.388C>G
ENST00000676228.1:c.*1280C>G	ENSP00000502375.1:n.*1280C>G
ENST00000255078.7:c.1957C>G	ENSP00000255078.3:p.His653Asp
ENST00000539064.5:n.1716C>G
ENST00000543739.5:n.950C>G
ENST00000545475.1:n.553C>G
NM_002180.2:c.1957C>G , LRG_250t1:c.1957C>G	NP_002171.2:p.His653Asp
XM_005273974.2:c.946C>G	XP_005274031.1:p.His316Asp
XM_005273975.2:c.829C>G	XP_005274032.1:p.His277Asp
XM_011544994.1:c.724C>G	XP_011543296.1:p.His242Asp
XR_949903.1:n.2059C>G
XM_005273975.3:c.829C>G	XP_005274032.1:p.His277Asp
XM_017017669.2:c.946C>G	XP_016873158.1:p.His316Asp
XM_017017670.2:c.946C>G	XP_016873159.1:p.His316Asp
XR_949903.3:n.2055C>G
NM_002180.3:c.1957C>G MANE Select	NP_002171.2:p.His653Asp