Canonical Allele Identifier: CA6153393

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs778607442
• ExAC: 11:68682353 T / C
• gnomAD v2: 11-68682353-T-C
• gnomAD v3: 11-68914885-T-C
• gnomAD v4: 11-68914885-T-C
• MyVariant Identifiers: chr11:g.68682353T>C (hg19) ; chr11:g.68914885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914885T>C , CM000673.2:g.68914885T>C	GRCh38
NC_000011.9:g.68682353T>C , CM000673.1:g.68682353T>C	GRCh37
NC_000011.8:g.68438929T>C	NCBI36
NG_007976.1:g.16035T>C , LRG_250:g.16035T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.774T>C MANE Select	ENSP00000255078.4:p.Cys258=
ENST00000539224.2:c.903T>C
ENST00000674955.1:c.774T>C	ENSP00000502463.1:p.Cys258=
ENST00000675118.1:c.121T>C
ENST00000675119.1:c.63T>C	ENSP00000501861.1:p.Cys21=
ENST00000675305.1:c.63T>C	ENSP00000502365.1:p.Cys21=
ENST00000675464.1:c.63T>C	ENSP00000502650.1:p.Cys21=
ENST00000675615.1:c.774T>C	ENSP00000502413.1:p.Cys258=
ENST00000675683.1:c.161T>C
ENST00000676173.1:n.818T>C
ENST00000676228.1:c.*97T>C	ENSP00000502375.1:n.*97T>C
ENST00000676239.1:n.88T>C
ENST00000255078.7:c.774T>C	ENSP00000255078.3:p.Cys258=
ENST00000539224.1:c.*97T>C	ENSP00000440465.1:n.*97T>C
NM_002180.2:c.774T>C , LRG_250t1:c.774T>C	NP_002171.2:p.Cys258=
XM_005273974.2:c.-238T>C	XP_005274031.1:n.-238T>C
XM_005273976.1:c.774T>C	XP_005274033.1:p.Cys258=
XR_247198.1:n.876T>C
XR_949903.1:n.876T>C
XM_005273976.2:c.774T>C	XP_005274033.1:p.Cys258=
XM_017017669.2:c.-238T>C	XP_016873158.1:n.-238T>C
XM_017017670.2:c.-238T>C	XP_016873159.1:n.-238T>C
XM_017017671.2:c.774T>C	XP_016873160.1:p.Cys258=
XR_949903.3:n.872T>C
NM_002180.3:c.774T>C MANE Select	NP_002171.2:p.Cys258=