Canonical Allele Identifier: CA381644892

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685283A>C (hg19) ; chr11:g.68917815A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917815A>C , CM000673.2:g.68917815A>C	GRCh38
NC_000011.9:g.68685283A>C , CM000673.1:g.68685283A>C	GRCh37
NC_000011.8:g.68441859A>C	NCBI36
NG_007976.1:g.18965A>C , LRG_250:g.18965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.992A>C MANE Select	ENSP00000255078.4:p.Lys331Thr
ENST00000674745.1:c.80A>C	ENSP00000502738.1:p.Lys27Thr
ENST00000674775.1:n.80A>C
ENST00000674955.1:c.992A>C	ENSP00000502463.1:p.Lys331Thr
ENST00000675118.1:c.480A>C
ENST00000675119.1:c.419A>C	ENSP00000501861.1:n.419A>C
ENST00000675305.1:c.312A>C	ENSP00000502365.1:n.312A>C
ENST00000675464.1:c.275A>C	ENSP00000502650.1:p.Lys92Thr
ENST00000675493.1:n.80A>C
ENST00000675615.1:c.992A>C	ENSP00000502413.1:p.Lys331Thr
ENST00000675648.1:n.367A>C
ENST00000675683.1:c.379A>C
ENST00000675684.1:c.80A>C	ENSP00000502192.1:p.Lys27Thr
ENST00000676173.1:n.1036A>C
ENST00000676228.1:c.*315A>C	ENSP00000502375.1:n.*315A>C
ENST00000255078.7:c.992A>C	ENSP00000255078.3:p.Lys331Thr
NM_002180.2:c.992A>C , LRG_250t1:c.992A>C	NP_002171.2:p.Lys331Thr
XM_005273974.2:c.-20A>C	XP_005274031.1:n.-20A>C
XM_005273976.1:c.992A>C	XP_005274033.1:p.Lys331Thr
XR_247198.1:n.1094A>C
XR_949903.1:n.1094A>C
XM_005273976.2:c.992A>C	XP_005274033.1:p.Lys331Thr
XM_017017669.2:c.-20A>C	XP_016873158.1:n.-20A>C
XM_017017670.2:c.-20A>C	XP_016873159.1:n.-20A>C
XM_017017671.2:c.992A>C	XP_016873160.1:p.Lys331Thr
XR_949903.3:n.1090A>C
NM_002180.3:c.992A>C MANE Select	NP_002171.2:p.Lys331Thr