Canonical Allele Identifier: CA381644492

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914963-A-C
• MyVariant Identifiers: chr11:g.68682431A>C (hg19) ; chr11:g.68914963A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914963A>C , CM000673.2:g.68914963A>C	GRCh38
NC_000011.9:g.68682431A>C , CM000673.1:g.68682431A>C	GRCh37
NC_000011.8:g.68439007A>C	NCBI36
NG_007976.1:g.16113A>C , LRG_250:g.16113A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.852A>C MANE Select	ENSP00000255078.4:p.Leu284Phe
ENST00000539224.2:c.981A>C
ENST00000674955.1:c.852A>C	ENSP00000502463.1:p.Leu284Phe
ENST00000675118.1:c.199A>C
ENST00000675119.1:c.141A>C	ENSP00000501861.1:p.Leu47Phe
ENST00000675305.1:c.141A>C	ENSP00000502365.1:p.Leu47Phe
ENST00000675464.1:c.141A>C	ENSP00000502650.1:p.Leu47Phe
ENST00000675615.1:c.852A>C	ENSP00000502413.1:p.Leu284Phe
ENST00000675683.1:c.239A>C
ENST00000676173.1:n.896A>C
ENST00000676228.1:c.*175A>C	ENSP00000502375.1:n.*175A>C
ENST00000676239.1:n.166A>C
ENST00000255078.7:c.852A>C	ENSP00000255078.3:p.Leu284Phe
NM_002180.2:c.852A>C , LRG_250t1:c.852A>C	NP_002171.2:p.Leu284Phe
XM_005273974.2:c.-160A>C	XP_005274031.1:n.-160A>C
XM_005273976.1:c.852A>C	XP_005274033.1:p.Leu284Phe
XR_247198.1:n.954A>C
XR_949903.1:n.954A>C
XM_005273976.2:c.852A>C	XP_005274033.1:p.Leu284Phe
XM_017017669.2:c.-160A>C	XP_016873158.1:n.-160A>C
XM_017017670.2:c.-160A>C	XP_016873159.1:n.-160A>C
XM_017017671.2:c.852A>C	XP_016873160.1:p.Leu284Phe
XR_949903.3:n.950A>C
NM_002180.3:c.852A>C MANE Select	NP_002171.2:p.Leu284Phe