Canonical Allele Identifier: CA10584388

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917885T>C , CM000673.2:g.68917885T>C	GRCh38
NC_000011.9:g.68685353T>C , CM000673.1:g.68685353T>C	GRCh37
NC_000011.8:g.68441929T>C	NCBI36
NG_007976.1:g.19035T>C , LRG_250:g.19035T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1060+2T>C MANE Select	NP_002171.2:n.1060+2T>C
ENST00000255078.8:c.1060+2T>C MANE Select	ENSP00000255078.4:n.1060+2T>C
NM_002180.2:c.1060+2T>C , LRG_250t1:c.1060+2T>C	NP_002171.2:n.1060+2T>C
ENST00000255078.7:c.1060+2T>C	ENSP00000255078.3:n.1060+2T>C
ENST00000674745.1:c.148+2T>C	ENSP00000502738.1:n.148+2T>C
ENST00000674775.1:n.148+2T>C
ENST00000674955.1:c.1060+2T>C	ENSP00000502463.1:n.1060+2T>C
ENST00000675118.1:c.548+2T>C
ENST00000675305.1:c.380+2T>C	ENSP00000502365.1:n.380+2T>C
ENST00000675493.1:n.148+2T>C
ENST00000675615.1:c.1060+2T>C	ENSP00000502413.1:n.1060+2T>C
ENST00000675648.1:n.435+2T>C
ENST00000675684.1:c.148+2T>C	ENSP00000502192.1:n.148+2T>C
ENST00000676173.1:n.1104+2T>C
ENST00000676228.1:c.*383+2T>C	ENSP00000502375.1:n.*383+2T>C
XM_005273974.2:c.49+2T>C	XP_005274031.1:n.49+2T>C
XM_005273976.1:c.1060+2T>C	XP_005274033.1:n.1060+2T>C
XM_005273976.2:c.1060+2T>C	XP_005274033.1:n.1060+2T>C
XM_017017669.2:c.49+2T>C	XP_016873158.1:n.49+2T>C
XM_017017670.2:c.49+2T>C	XP_016873159.1:n.49+2T>C
XM_017017671.2:c.1060+2T>C	XP_016873160.1:n.1060+2T>C
XR_247198.1:n.1162+2T>C
XR_949903.1:n.1162+2T>C
XR_949903.3:n.1158+2T>C