Canonical Allele Identifier: CA381644260

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 949567
• ClinVar RCV Id: RCV001221052
• dbSNP Id: rs1555243999
• MyVariant Identifiers: chr11:g.68682313A>C (hg19) ; chr11:g.68914845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914845A>C , CM000673.2:g.68914845A>C	GRCh38
NC_000011.9:g.68682313A>C , CM000673.1:g.68682313A>C	GRCh37
NC_000011.8:g.68438889A>C	NCBI36
NG_007976.1:g.15995A>C , LRG_250:g.15995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.734A>C MANE Select	ENSP00000255078.4:p.Asn245Thr
ENST00000539224.2:c.863A>C
ENST00000674955.1:c.734A>C	ENSP00000502463.1:p.Asn245Thr
ENST00000675118.1:c.81A>C
ENST00000675119.1:c.23A>C	ENSP00000501861.1:p.Asn8Thr
ENST00000675305.1:c.23A>C	ENSP00000502365.1:p.Asn8Thr
ENST00000675464.1:c.23A>C	ENSP00000502650.1:p.Asn8Thr
ENST00000675615.1:c.734A>C	ENSP00000502413.1:p.Asn245Thr
ENST00000675683.1:c.121A>C
ENST00000676173.1:n.778A>C
ENST00000676228.1:c.*57A>C	ENSP00000502375.1:n.*57A>C
ENST00000676239.1:n.48A>C
ENST00000255078.7:c.734A>C	ENSP00000255078.3:p.Asn245Thr
ENST00000539224.1:c.*57A>C	ENSP00000440465.1:n.*57A>C
NM_002180.2:c.734A>C , LRG_250t1:c.734A>C	NP_002171.2:p.Asn245Thr
XM_005273974.2:c.-278A>C	XP_005274031.1:n.-278A>C
XM_005273976.1:c.734A>C	XP_005274033.1:p.Asn245Thr
XR_247198.1:n.836A>C
XR_949903.1:n.836A>C
XM_005273976.2:c.734A>C	XP_005274033.1:p.Asn245Thr
XM_017017669.2:c.-278A>C	XP_016873158.1:n.-278A>C
XM_017017670.2:c.-278A>C	XP_016873159.1:n.-278A>C
XM_017017671.2:c.734A>C	XP_016873160.1:p.Asn245Thr
XR_949903.3:n.832A>C
NM_002180.3:c.734A>C MANE Select	NP_002171.2:p.Asn245Thr