Canonical Allele Identifier: CA381647464

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68696697C>A (hg19) ; chr11:g.68929229C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929229C>A , CM000673.2:g.68929229C>A	GRCh38
NC_000011.9:g.68696697C>A , CM000673.1:g.68696697C>A	GRCh37
NC_000011.8:g.68453273C>A	NCBI36
NG_007976.1:g.30379C>A , LRG_250:g.30379C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1107C>A MANE Select	ENSP00000255078.4:p.Phe369Leu
ENST00000674698.1:n.47C>A
ENST00000674745.1:c.272C>A	ENSP00000502738.1:n.272C>A
ENST00000674775.1:n.307C>A
ENST00000674955.1:c.1107C>A	ENSP00000502463.1:p.Phe369Leu
ENST00000675118.1:c.595C>A
ENST00000675305.1:c.427C>A	ENSP00000502365.1:n.427C>A
ENST00000675310.1:n.47C>A
ENST00000675493.1:n.268C>A
ENST00000675615.1:c.1107C>A	ENSP00000502413.1:p.Phe369Leu
ENST00000675648.1:n.482C>A
ENST00000675684.1:c.234C>A	ENSP00000502192.1:p.Phe78Leu
ENST00000675755.1:n.47C>A
ENST00000676083.1:n.47C>A
ENST00000676173.1:n.1151C>A
ENST00000676228.1:c.*430C>A	ENSP00000502375.1:n.*430C>A
ENST00000676240.1:n.47C>A
ENST00000676400.1:n.47C>A
ENST00000255078.7:c.1107C>A	ENSP00000255078.3:p.Phe369Leu
ENST00000568742.1:n.217C>A
NM_002180.2:c.1107C>A , LRG_250t1:c.1107C>A	NP_002171.2:p.Phe369Leu
XM_005273974.2:c.96C>A	XP_005274031.1:p.Phe32Leu
XM_005273976.1:c.1107C>A	XP_005274033.1:p.Phe369Leu
XR_247198.1:n.1209C>A
XR_949903.1:n.1209C>A
XM_005273976.2:c.1107C>A	XP_005274033.1:p.Phe369Leu
XM_017017669.2:c.96C>A	XP_016873158.1:p.Phe32Leu
XM_017017670.2:c.96C>A	XP_016873159.1:p.Phe32Leu
XM_017017671.2:c.1107C>A	XP_016873160.1:p.Phe369Leu
XR_949903.3:n.1205C>A
NM_002180.3:c.1107C>A MANE Select	NP_002171.2:p.Phe369Leu