Canonical Allele Identifier: CA6153608

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933399C>T , CM000673.2:g.68933399C>T	GRCh38
NC_000011.9:g.68700867C>T , CM000673.1:g.68700867C>T	GRCh37
NC_000011.8:g.68457443C>T	NCBI36
NG_007976.1:g.34549C>T , LRG_250:g.34549C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1336C>T MANE Select	NP_002171.2:p.Gln446Ter
ENST00000255078.8:c.1336C>T MANE Select	ENSP00000255078.4:p.Gln446Ter
NM_002180.2:c.1336C>T , LRG_250t1:c.1336C>T	NP_002171.2:p.Gln446Ter
ENST00000255078.7:c.1336C>T	ENSP00000255078.3:p.Gln446Ter
ENST00000536803.2:n.247C>T
ENST00000537458.5:n.453C>T
ENST00000539064.5:n.1095C>T
ENST00000543739.5:n.453C>T
ENST00000674955.1:c.*53C>T	ENSP00000502463.1:n.*53C>T
ENST00000675118.1:c.824C>T
ENST00000675205.1:n.101C>T
ENST00000675310.1:n.473C>T
ENST00000675615.1:c.1336C>T	ENSP00000502413.1:p.Gln446Ter
ENST00000675648.1:n.711C>T
ENST00000675997.1:n.113-1065C>T
ENST00000676149.1:n.410C>T
ENST00000676173.1:n.2081C>T
ENST00000676228.1:c.*659C>T	ENSP00000502375.1:n.*659C>T
XM_005273974.2:c.325C>T	XP_005274031.1:p.Gln109Ter
XM_005273975.2:c.208C>T	XP_005274032.1:p.Gln70Ter
XM_005273975.3:c.208C>T	XP_005274032.1:p.Gln70Ter
XM_011544994.1:c.103C>T	XP_011543296.1:p.Gln35Ter
XM_017017669.2:c.325C>T	XP_016873158.1:p.Gln109Ter
XM_017017670.2:c.325C>T	XP_016873159.1:p.Gln109Ter
XM_017017671.2:c.1336C>T	XP_016873160.1:p.Gln446Ter
XR_949903.1:n.1438C>T
XR_949903.3:n.1434C>T