Canonical Allele Identifier: CA381644371

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682369C>G (hg19) ; chr11:g.68914901C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914901C>G , CM000673.2:g.68914901C>G	GRCh38
NC_000011.9:g.68682369C>G , CM000673.1:g.68682369C>G	GRCh37
NC_000011.8:g.68438945C>G	NCBI36
NG_007976.1:g.16051C>G , LRG_250:g.16051C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.790C>G MANE Select	ENSP00000255078.4:p.Arg264Gly
ENST00000539224.2:c.919C>G
ENST00000674955.1:c.790C>G	ENSP00000502463.1:p.Arg264Gly
ENST00000675118.1:c.137C>G
ENST00000675119.1:c.79C>G	ENSP00000501861.1:p.Arg27Gly
ENST00000675305.1:c.79C>G	ENSP00000502365.1:p.Arg27Gly
ENST00000675464.1:c.79C>G	ENSP00000502650.1:p.Arg27Gly
ENST00000675615.1:c.790C>G	ENSP00000502413.1:p.Arg264Gly
ENST00000675683.1:c.177C>G
ENST00000676173.1:n.834C>G
ENST00000676228.1:c.*113C>G	ENSP00000502375.1:n.*113C>G
ENST00000676239.1:n.104C>G
ENST00000255078.7:c.790C>G	ENSP00000255078.3:p.Arg264Gly
ENST00000539224.1:c.*113C>G	ENSP00000440465.1:n.*113C>G
NM_002180.2:c.790C>G , LRG_250t1:c.790C>G	NP_002171.2:p.Arg264Gly
XM_005273974.2:c.-222C>G	XP_005274031.1:n.-222C>G
XM_005273976.1:c.790C>G	XP_005274033.1:p.Arg264Gly
XR_247198.1:n.892C>G
XR_949903.1:n.892C>G
XM_005273976.2:c.790C>G	XP_005274033.1:p.Arg264Gly
XM_017017669.2:c.-222C>G	XP_016873158.1:n.-222C>G
XM_017017670.2:c.-222C>G	XP_016873159.1:n.-222C>G
XM_017017671.2:c.790C>G	XP_016873160.1:p.Arg264Gly
XR_949903.3:n.888C>G
NM_002180.3:c.790C>G MANE Select	NP_002171.2:p.Arg264Gly