Canonical Allele Identifier: CA381644860

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685268T>C (hg19) ; chr11:g.68917800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917800T>C , CM000673.2:g.68917800T>C	GRCh38
NC_000011.9:g.68685268T>C , CM000673.1:g.68685268T>C	GRCh37
NC_000011.8:g.68441844T>C	NCBI36
NG_007976.1:g.18950T>C , LRG_250:g.18950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.977T>C MANE Select	ENSP00000255078.4:p.Leu326Ser
ENST00000674745.1:c.65T>C	ENSP00000502738.1:p.Leu22Ser
ENST00000674775.1:n.65T>C
ENST00000674955.1:c.977T>C	ENSP00000502463.1:p.Leu326Ser
ENST00000675118.1:c.465T>C
ENST00000675119.1:c.404T>C	ENSP00000501861.1:n.404T>C
ENST00000675305.1:c.297T>C	ENSP00000502365.1:n.297T>C
ENST00000675464.1:c.260T>C	ENSP00000502650.1:p.Leu87Ser
ENST00000675493.1:n.65T>C
ENST00000675615.1:c.977T>C	ENSP00000502413.1:p.Leu326Ser
ENST00000675648.1:n.352T>C
ENST00000675683.1:c.364T>C
ENST00000675684.1:c.65T>C	ENSP00000502192.1:p.Leu22Ser
ENST00000676173.1:n.1021T>C
ENST00000676228.1:c.*300T>C	ENSP00000502375.1:n.*300T>C
ENST00000255078.7:c.977T>C	ENSP00000255078.3:p.Leu326Ser
NM_002180.2:c.977T>C , LRG_250t1:c.977T>C	NP_002171.2:p.Leu326Ser
XM_005273974.2:c.-35T>C	XP_005274031.1:n.-35T>C
XM_005273976.1:c.977T>C	XP_005274033.1:p.Leu326Ser
XR_247198.1:n.1079T>C
XR_949903.1:n.1079T>C
XM_005273976.2:c.977T>C	XP_005274033.1:p.Leu326Ser
XM_017017669.2:c.-35T>C	XP_016873158.1:n.-35T>C
XM_017017670.2:c.-35T>C	XP_016873159.1:n.-35T>C
XM_017017671.2:c.977T>C	XP_016873160.1:p.Leu326Ser
XR_949903.3:n.1075T>C
NM_002180.3:c.977T>C MANE Select	NP_002171.2:p.Leu326Ser