Canonical Allele Identifier: CA381643250

Gene: IGHMBP2

Linked Data

• COSMIC: COSM690269
• MyVariant Identifiers: chr11:g.68675734G>C (hg19) ; chr11:g.68908266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908266G>C , CM000673.2:g.68908266G>C	GRCh38
NC_000011.9:g.68675734G>C , CM000673.1:g.68675734G>C	GRCh37
NC_000011.8:g.68432310G>C	NCBI36
NG_007976.1:g.9416G>C , LRG_250:g.9416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.378G>C MANE Select	ENSP00000255078.4:p.Leu126Phe
ENST00000539224.2:c.341G>C
ENST00000674583.1:c.341G>C
ENST00000674597.1:c.189G>C
ENST00000674955.1:c.378G>C	ENSP00000502463.1:p.Leu126Phe
ENST00000675142.1:n.341G>C
ENST00000675469.1:c.254G>C
ENST00000675615.1:c.378G>C	ENSP00000502413.1:p.Leu126Phe
ENST00000675674.1:n.341G>C
ENST00000675873.1:c.341G>C
ENST00000676173.1:n.422G>C
ENST00000676228.1:c.378G>C	ENSP00000502375.1:p.Leu126Phe
ENST00000255078.7:c.378G>C	ENSP00000255078.3:p.Leu126Phe
ENST00000539224.1:c.378G>C	ENSP00000440465.1:p.Leu126Phe
ENST00000544541.1:c.*118G>C	ENSP00000443343.1:n.*118G>C
NM_002180.2:c.378G>C , LRG_250t1:c.378G>C	NP_002171.2:p.Leu126Phe
XM_005273974.2:c.-634G>C	XP_005274031.1:n.-634G>C
XM_005273976.1:c.378G>C	XP_005274033.1:p.Leu126Phe
XR_247198.1:n.480G>C
XR_949903.1:n.480G>C
XM_005273976.2:c.378G>C	XP_005274033.1:p.Leu126Phe
XM_017017669.2:c.-536G>C	XP_016873158.1:n.-536G>C
XM_017017671.2:c.378G>C	XP_016873160.1:p.Leu126Phe
XR_949903.3:n.476G>C
NM_002180.3:c.378G>C MANE Select	NP_002171.2:p.Leu126Phe