Canonical Allele Identifier: CA6153392

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs754474113
• ExAC: 11:68682349 T / C
• gnomAD v2: 11-68682349-T-C
• gnomAD v4: 11-68914881-T-C
• MyVariant Identifiers: chr11:g.68682349T>C (hg19) ; chr11:g.68914881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914881T>C , CM000673.2:g.68914881T>C	GRCh38
NC_000011.9:g.68682349T>C , CM000673.1:g.68682349T>C	GRCh37
NC_000011.8:g.68438925T>C	NCBI36
NG_007976.1:g.16031T>C , LRG_250:g.16031T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.770T>C MANE Select	ENSP00000255078.4:p.Leu257Pro
ENST00000539224.2:c.899T>C
ENST00000674955.1:c.770T>C	ENSP00000502463.1:p.Leu257Pro
ENST00000675118.1:c.117T>C
ENST00000675119.1:c.59T>C	ENSP00000501861.1:p.Leu20Pro
ENST00000675305.1:c.59T>C	ENSP00000502365.1:p.Leu20Pro
ENST00000675464.1:c.59T>C	ENSP00000502650.1:p.Leu20Pro
ENST00000675615.1:c.770T>C	ENSP00000502413.1:p.Leu257Pro
ENST00000675683.1:c.157T>C
ENST00000676173.1:n.814T>C
ENST00000676228.1:c.*93T>C	ENSP00000502375.1:n.*93T>C
ENST00000676239.1:n.84T>C
ENST00000255078.7:c.770T>C	ENSP00000255078.3:p.Leu257Pro
ENST00000539224.1:c.*93T>C	ENSP00000440465.1:n.*93T>C
NM_002180.2:c.770T>C , LRG_250t1:c.770T>C	NP_002171.2:p.Leu257Pro
XM_005273974.2:c.-242T>C	XP_005274031.1:n.-242T>C
XM_005273976.1:c.770T>C	XP_005274033.1:p.Leu257Pro
XR_247198.1:n.872T>C
XR_949903.1:n.872T>C
XM_005273976.2:c.770T>C	XP_005274033.1:p.Leu257Pro
XM_017017669.2:c.-242T>C	XP_016873158.1:n.-242T>C
XM_017017670.2:c.-242T>C	XP_016873159.1:n.-242T>C
XM_017017671.2:c.770T>C	XP_016873160.1:p.Leu257Pro
XR_949903.3:n.868T>C
NM_002180.3:c.770T>C MANE Select	NP_002171.2:p.Leu257Pro