Canonical Allele Identifier: CA475193447

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914957-G-C
• MyVariant Identifiers: chr11:g.68682425G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914957G>C , CM000673.2:g.68914957G>C	GRCh38
NC_000011.9:g.68682425G>C , CM000673.1:g.68682425G>C	GRCh37
NC_000011.8:g.68439001G>C	NCBI36
NG_007976.1:g.16107G>C , LRG_250:g.16107G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.846G>C MANE Select	ENSP00000255078.4:p.Ala282=
ENST00000539224.2:c.975G>C
ENST00000674955.1:c.846G>C	ENSP00000502463.1:p.Ala282=
ENST00000675118.1:c.193G>C
ENST00000675119.1:c.135G>C	ENSP00000501861.1:p.Ala45=
ENST00000675305.1:c.135G>C	ENSP00000502365.1:p.Ala45=
ENST00000675464.1:c.135G>C	ENSP00000502650.1:p.Ala45=
ENST00000675615.1:c.846G>C	ENSP00000502413.1:p.Ala282=
ENST00000675683.1:c.233G>C
ENST00000676173.1:n.890G>C
ENST00000676228.1:c.*169G>C	ENSP00000502375.1:n.*169G>C
ENST00000676239.1:n.160G>C
ENST00000255078.7:c.846G>C	ENSP00000255078.3:p.Ala282=
NM_002180.2:c.846G>C , LRG_250t1:c.846G>C	NP_002171.2:p.Ala282=
XM_005273974.2:c.-166G>C	XP_005274031.1:n.-166G>C
XM_005273976.1:c.846G>C	XP_005274033.1:p.Ala282=
XR_247198.1:n.948G>C
XR_949903.1:n.948G>C
XM_005273976.2:c.846G>C	XP_005274033.1:p.Ala282=
XM_017017669.2:c.-166G>C	XP_016873158.1:n.-166G>C
XM_017017670.2:c.-166G>C	XP_016873159.1:n.-166G>C
XM_017017671.2:c.846G>C	XP_016873160.1:p.Ala282=
XR_949903.3:n.944G>C
NM_002180.3:c.846G>C MANE Select	NP_002171.2:p.Ala282=