Canonical Allele Identifier: CA381643775

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68911492T>C , CM000673.2:g.68911492T>C	GRCh38
NC_000011.9:g.68678960T>C , CM000673.1:g.68678960T>C	GRCh37
NC_000011.8:g.68435536T>C	NCBI36
NG_007976.1:g.12642T>C , LRG_250:g.12642T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.600T>C MANE Select	NP_002171.2:p.Val200=
ENST00000255078.8:c.600T>C MANE Select	ENSP00000255078.4:p.Val200=
NM_002180.2:c.600T>C , LRG_250t1:c.600T>C	NP_002171.2:p.Val200=
ENST00000255078.7:c.600T>C	ENSP00000255078.3:p.Val200=
ENST00000539224.1:c.502T>C	ENSP00000440465.1:p.Phe168Leu
ENST00000539224.2:c.563T>C
ENST00000674583.1:c.563T>C
ENST00000674955.1:c.600T>C	ENSP00000502463.1:p.Val200=
ENST00000675142.1:n.563T>C
ENST00000675615.1:c.600T>C	ENSP00000502413.1:p.Val200=
ENST00000675674.1:n.563T>C
ENST00000675683.1:c.98+2861T>C
ENST00000675873.1:c.563T>C
ENST00000676173.1:n.644T>C
ENST00000676228.1:c.502T>C	ENSP00000502375.1:p.Phe168Leu
XM_005273974.2:c.-412T>C	XP_005274031.1:n.-412T>C
XM_005273976.1:c.600T>C	XP_005274033.1:p.Val200=
XM_005273976.2:c.600T>C	XP_005274033.1:p.Val200=
XM_017017669.2:c.-412T>C	XP_016873158.1:n.-412T>C
XM_017017671.2:c.600T>C	XP_016873160.1:p.Val200=
XR_247198.1:n.702T>C
XR_949903.1:n.702T>C
XR_949903.3:n.698T>C