Canonical Allele Identifier: CA381643440

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1389564
• ClinVar RCV Id: RCV001917390
• dbSNP Id: rs1594418365
• MyVariant Identifiers: chr11:g.68676016T>C (hg19) ; chr11:g.68908548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908548T>C , CM000673.2:g.68908548T>C	GRCh38
NC_000011.9:g.68676016T>C , CM000673.1:g.68676016T>C	GRCh37
NC_000011.8:g.68432592T>C	NCBI36
NG_007976.1:g.9698T>C , LRG_250:g.9698T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.464T>C MANE Select	ENSP00000255078.4:p.Leu155Pro
ENST00000539224.2:c.427T>C
ENST00000674583.1:c.427T>C
ENST00000674597.1:c.275T>C
ENST00000674955.1:c.464T>C	ENSP00000502463.1:p.Leu155Pro
ENST00000675142.1:n.427T>C
ENST00000675469.1:c.340T>C
ENST00000675615.1:c.464T>C	ENSP00000502413.1:p.Leu155Pro
ENST00000675674.1:n.427T>C
ENST00000675683.1:c.15T>C
ENST00000675873.1:c.427T>C
ENST00000676173.1:n.508T>C
ENST00000676228.1:c.449+211T>C	ENSP00000502375.1:n.449+211T>C
ENST00000255078.7:c.464T>C	ENSP00000255078.3:p.Leu155Pro
ENST00000539224.1:c.449+211T>C	ENSP00000440465.1:n.449+211T>C
ENST00000544541.1:c.*204T>C	ENSP00000443343.1:n.*204T>C
NM_002180.2:c.464T>C , LRG_250t1:c.464T>C	NP_002171.2:p.Leu155Pro
XM_005273974.2:c.-548T>C	XP_005274031.1:n.-548T>C
XM_005273976.1:c.464T>C	XP_005274033.1:p.Leu155Pro
XR_247198.1:n.566T>C
XR_949903.1:n.566T>C
XM_005273976.2:c.464T>C	XP_005274033.1:p.Leu155Pro
XM_017017669.2:c.-465+211T>C	XP_016873158.1:n.-465+211T>C
XM_017017671.2:c.464T>C	XP_016873160.1:p.Leu155Pro
XR_949903.3:n.562T>C
NM_002180.3:c.464T>C MANE Select	NP_002171.2:p.Leu155Pro