Canonical Allele Identifier: CA351265

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68911552A>C , CM000673.2:g.68911552A>C	GRCh38
NC_000011.9:g.68679020A>C , CM000673.1:g.68679020A>C	GRCh37
NC_000011.8:g.68435596A>C	NCBI36
NG_007976.1:g.12702A>C , LRG_250:g.12702A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.660A>C MANE Select	NP_002171.2:p.Lys220Asn
ENST00000255078.8:c.660A>C MANE Select	ENSP00000255078.4:p.Lys220Asn
NM_002180.2:c.660A>C , LRG_250t1:c.660A>C	NP_002171.2:p.Lys220Asn
ENST00000255078.7:c.660A>C	ENSP00000255078.3:p.Lys220Asn
ENST00000539224.1:c.562A>C	ENSP00000440465.1:p.Asn188His
ENST00000539224.2:c.623A>C
ENST00000674583.1:c.623A>C
ENST00000674955.1:c.660A>C	ENSP00000502463.1:p.Lys220Asn
ENST00000675118.1:c.7A>C
ENST00000675142.1:n.623A>C
ENST00000675615.1:c.660A>C	ENSP00000502413.1:p.Lys220Asn
ENST00000675674.1:n.623A>C
ENST00000675683.1:c.98+2921A>C
ENST00000675873.1:c.623A>C
ENST00000676173.1:n.704A>C
ENST00000676228.1:c.562A>C	ENSP00000502375.1:p.Asn188His
XM_005273974.2:c.-352A>C	XP_005274031.1:n.-352A>C
XM_005273976.1:c.660A>C	XP_005274033.1:p.Lys220Asn
XM_005273976.2:c.660A>C	XP_005274033.1:p.Lys220Asn
XM_017017669.2:c.-352A>C	XP_016873158.1:n.-352A>C
XM_017017671.2:c.660A>C	XP_016873160.1:p.Lys220Asn
XR_247198.1:n.762A>C
XR_949903.1:n.762A>C
XR_949903.3:n.758A>C