Canonical Allele Identifier: CA381647523

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68696725C>T (hg19) ; chr11:g.68929257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929257C>T , CM000673.2:g.68929257C>T	GRCh38
NC_000011.9:g.68696725C>T , CM000673.1:g.68696725C>T	GRCh37
NC_000011.8:g.68453301C>T	NCBI36
NG_007976.1:g.30407C>T , LRG_250:g.30407C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1135C>T MANE Select	ENSP00000255078.4:p.Gln379Ter
ENST00000674698.1:n.75C>T
ENST00000674745.1:c.300C>T	ENSP00000502738.1:n.300C>T
ENST00000674775.1:n.335C>T
ENST00000674955.1:c.1135C>T	ENSP00000502463.1:p.Gln379Ter
ENST00000675118.1:c.623C>T
ENST00000675305.1:c.455C>T	ENSP00000502365.1:n.455C>T
ENST00000675310.1:n.75C>T
ENST00000675493.1:n.296C>T
ENST00000675615.1:c.1135C>T	ENSP00000502413.1:p.Gln379Ter
ENST00000675648.1:n.510C>T
ENST00000675684.1:c.262C>T	ENSP00000502192.1:p.Gln88Ter
ENST00000675755.1:n.75C>T
ENST00000676083.1:n.75C>T
ENST00000676173.1:n.1179C>T
ENST00000676228.1:c.*458C>T	ENSP00000502375.1:n.*458C>T
ENST00000676240.1:n.75C>T
ENST00000676400.1:n.75C>T
ENST00000255078.7:c.1135C>T	ENSP00000255078.3:p.Gln379Ter
ENST00000568742.1:n.245C>T
NM_002180.2:c.1135C>T , LRG_250t1:c.1135C>T	NP_002171.2:p.Gln379Ter
XM_005273974.2:c.124C>T	XP_005274031.1:p.Gln42Ter
XM_005273976.1:c.1135C>T	XP_005274033.1:p.Gln379Ter
XR_247198.1:n.1237C>T
XR_949903.1:n.1237C>T
XM_005273976.2:c.1135C>T	XP_005274033.1:p.Gln379Ter
XM_017017669.2:c.124C>T	XP_016873158.1:p.Gln42Ter
XM_017017670.2:c.124C>T	XP_016873159.1:p.Gln42Ter
XM_017017671.2:c.1135C>T	XP_016873160.1:p.Gln379Ter
XR_949903.3:n.1233C>T
NM_002180.3:c.1135C>T MANE Select	NP_002171.2:p.Gln379Ter