Canonical Allele Identifier: CA381644230

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914829-T-G
• MyVariant Identifiers: chr11:g.68682297T>G (hg19) ; chr11:g.68914829T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914829T>G , CM000673.2:g.68914829T>G	GRCh38
NC_000011.9:g.68682297T>G , CM000673.1:g.68682297T>G	GRCh37
NC_000011.8:g.68438873T>G	NCBI36
NG_007976.1:g.15979T>G , LRG_250:g.15979T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.718T>G MANE Select	ENSP00000255078.4:p.Cys240Gly
ENST00000539224.2:c.847T>G
ENST00000674955.1:c.718T>G	ENSP00000502463.1:p.Cys240Gly
ENST00000675118.1:c.65T>G
ENST00000675119.1:c.7T>G	ENSP00000501861.1:p.Cys3Gly
ENST00000675305.1:c.7T>G	ENSP00000502365.1:p.Cys3Gly
ENST00000675464.1:c.7T>G	ENSP00000502650.1:p.Cys3Gly
ENST00000675615.1:c.718T>G	ENSP00000502413.1:p.Cys240Gly
ENST00000675683.1:c.105T>G
ENST00000676173.1:n.762T>G
ENST00000676228.1:c.*41T>G	ENSP00000502375.1:n.*41T>G
ENST00000676239.1:n.32T>G
ENST00000255078.7:c.718T>G	ENSP00000255078.3:p.Cys240Gly
ENST00000539224.1:c.*41T>G	ENSP00000440465.1:n.*41T>G
NM_002180.2:c.718T>G , LRG_250t1:c.718T>G	NP_002171.2:p.Cys240Gly
XM_005273974.2:c.-294T>G	XP_005274031.1:n.-294T>G
XM_005273976.1:c.718T>G	XP_005274033.1:p.Cys240Gly
XR_247198.1:n.820T>G
XR_949903.1:n.820T>G
XM_005273976.2:c.718T>G	XP_005274033.1:p.Cys240Gly
XM_017017669.2:c.-294T>G	XP_016873158.1:n.-294T>G
XM_017017670.2:c.-294T>G	XP_016873159.1:n.-294T>G
XM_017017671.2:c.718T>G	XP_016873160.1:p.Cys240Gly
XR_949903.3:n.816T>G
NM_002180.3:c.718T>G MANE Select	NP_002171.2:p.Cys240Gly