Canonical Allele Identifier: CA381642538

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68906198C>G , CM000673.2:g.68906198C>G	GRCh38
NC_000011.9:g.68673666C>G , CM000673.1:g.68673666C>G	GRCh37
NC_000011.8:g.68430242C>G	NCBI36
NG_007976.1:g.7348C>G , LRG_250:g.7348C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.216C>G MANE Select	NP_002171.2:p.Tyr72Ter
ENST00000255078.8:c.216C>G MANE Select	ENSP00000255078.4:p.Tyr72Ter
NM_002180.2:c.216C>G , LRG_250t1:c.216C>G	NP_002171.2:p.Tyr72Ter
ENST00000255078.7:c.216C>G	ENSP00000255078.3:p.Tyr72Ter
ENST00000539224.1:c.216C>G	ENSP00000440465.1:p.Tyr72Ter
ENST00000539224.2:c.179C>G
ENST00000544541.1:c.87-1947C>G	ENSP00000443343.1:n.87-1947C>G
ENST00000545146.1:c.216C>G	ENSP00000456366.1:p.Tyr72Ter
ENST00000674583.1:c.179C>G
ENST00000674597.1:c.67+63C>G
ENST00000674729.1:n.159C>G
ENST00000674955.1:c.216C>G	ENSP00000502463.1:p.Tyr72Ter
ENST00000675142.1:n.179C>G
ENST00000675469.1:c.130C>G
ENST00000675615.1:c.216C>G	ENSP00000502413.1:p.Tyr72Ter
ENST00000675674.1:n.179C>G
ENST00000675800.1:n.161C>G
ENST00000675873.1:c.179C>G
ENST00000676173.1:n.256C>G
ENST00000676228.1:c.216C>G	ENSP00000502375.1:p.Tyr72Ter
XM_005273974.2:c.-800C>G	XP_005274031.1:n.-800C>G
XM_005273976.1:c.216C>G	XP_005274033.1:p.Tyr72Ter
XM_005273976.2:c.216C>G	XP_005274033.1:p.Tyr72Ter
XM_017017669.2:c.-698C>G	XP_016873158.1:n.-698C>G
XM_017017671.2:c.216C>G	XP_016873160.1:p.Tyr72Ter
XR_247198.1:n.318C>G
XR_949903.1:n.318C>G
XR_949903.3:n.314C>G