Canonical Allele Identifier: CA6153908

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs745636363
• ExAC: 11:68704362 T / C
• gnomAD v2: 11-68704362-T-C
• gnomAD v4: 11-68936894-T-C
• MyVariant Identifiers: chr11:g.68704362T>C (hg19) ; chr11:g.68936894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936894T>C , CM000673.2:g.68936894T>C	GRCh38
NC_000011.9:g.68704362T>C , CM000673.1:g.68704362T>C	GRCh37
NC_000011.8:g.68460938T>C	NCBI36
NG_007976.1:g.38044T>C , LRG_250:g.38044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2414T>C MANE Select	ENSP00000255078.4:p.Leu805Pro
ENST00000674675.1:c.588-29T>C
ENST00000674878.1:c.548-29T>C
ENST00000675118.1:c.1902T>C
ENST00000675389.1:n.689T>C
ENST00000675615.1:c.2414T>C	ENSP00000502413.1:p.Leu805Pro
ENST00000675648.1:n.1789T>C
ENST00000675916.1:c.658T>C
ENST00000676173.1:n.3159T>C
ENST00000676182.1:c.845T>C
ENST00000676228.1:c.*1737T>C	ENSP00000502375.1:n.*1737T>C
ENST00000255078.7:c.2414T>C	ENSP00000255078.3:p.Leu805Pro
ENST00000539064.5:n.2173T>C
ENST00000543739.5:n.1407T>C
NM_002180.2:c.2414T>C , LRG_250t1:c.2414T>C	NP_002171.2:p.Leu805Pro
XM_005273974.2:c.1403T>C	XP_005274031.1:p.Leu468Pro
XM_005273975.2:c.1286T>C	XP_005274032.1:p.Leu429Pro
XM_011544994.1:c.1181T>C	XP_011543296.1:p.Leu394Pro
XR_949903.1:n.2516T>C
XM_005273975.3:c.1286T>C	XP_005274032.1:p.Leu429Pro
XM_017017669.2:c.1403T>C	XP_016873158.1:p.Leu468Pro
XM_017017670.2:c.1403T>C	XP_016873159.1:p.Leu468Pro
XR_949903.3:n.2512T>C
NM_002180.3:c.2414T>C MANE Select	NP_002171.2:p.Leu805Pro