Canonical Allele Identifier: CA381644368

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914899-T-C
• MyVariant Identifiers: chr11:g.68682367T>C (hg19) ; chr11:g.68914899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914899T>C , CM000673.2:g.68914899T>C	GRCh38
NC_000011.9:g.68682367T>C , CM000673.1:g.68682367T>C	GRCh37
NC_000011.8:g.68438943T>C	NCBI36
NG_007976.1:g.16049T>C , LRG_250:g.16049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.788T>C MANE Select	ENSP00000255078.4:p.Leu263Pro
ENST00000539224.2:c.917T>C
ENST00000674955.1:c.788T>C	ENSP00000502463.1:p.Leu263Pro
ENST00000675118.1:c.135T>C
ENST00000675119.1:c.77T>C	ENSP00000501861.1:p.Leu26Pro
ENST00000675305.1:c.77T>C	ENSP00000502365.1:p.Leu26Pro
ENST00000675464.1:c.77T>C	ENSP00000502650.1:p.Leu26Pro
ENST00000675615.1:c.788T>C	ENSP00000502413.1:p.Leu263Pro
ENST00000675683.1:c.175T>C
ENST00000676173.1:n.832T>C
ENST00000676228.1:c.*111T>C	ENSP00000502375.1:n.*111T>C
ENST00000676239.1:n.102T>C
ENST00000255078.7:c.788T>C	ENSP00000255078.3:p.Leu263Pro
ENST00000539224.1:c.*111T>C	ENSP00000440465.1:n.*111T>C
NM_002180.2:c.788T>C , LRG_250t1:c.788T>C	NP_002171.2:p.Leu263Pro
XM_005273974.2:c.-224T>C	XP_005274031.1:n.-224T>C
XM_005273976.1:c.788T>C	XP_005274033.1:p.Leu263Pro
XR_247198.1:n.890T>C
XR_949903.1:n.890T>C
XM_005273976.2:c.788T>C	XP_005274033.1:p.Leu263Pro
XM_017017669.2:c.-224T>C	XP_016873158.1:n.-224T>C
XM_017017670.2:c.-224T>C	XP_016873159.1:n.-224T>C
XM_017017671.2:c.788T>C	XP_016873160.1:p.Leu263Pro
XR_949903.3:n.886T>C
NM_002180.3:c.788T>C MANE Select	NP_002171.2:p.Leu263Pro