Canonical Allele Identifier: CA6153513

Gene: IGHMBP2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929186C>T , CM000673.2:g.68929186C>T	GRCh38
NC_000011.9:g.68696654C>T , CM000673.1:g.68696654C>T	GRCh37
NC_000011.8:g.68453230C>T	NCBI36
NG_007976.1:g.30336C>T , LRG_250:g.30336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1064C>T MANE Select	ENSP00000255078.4:p.Ala355Val
ENST00000674698.1:n.4C>T
ENST00000674745.1:c.229C>T	ENSP00000502738.1:n.229C>T
ENST00000674775.1:n.264C>T
ENST00000674955.1:c.1064C>T	ENSP00000502463.1:p.Ala355Val
ENST00000675118.1:c.552C>T
ENST00000675305.1:c.384C>T	ENSP00000502365.1:n.384C>T
ENST00000675310.1:n.4C>T
ENST00000675493.1:n.225C>T
ENST00000675615.1:c.1064C>T	ENSP00000502413.1:p.Ala355Val
ENST00000675648.1:n.439C>T
ENST00000675684.1:c.191C>T	ENSP00000502192.1:p.Ala64Val
ENST00000675755.1:n.4C>T
ENST00000676083.1:n.4C>T
ENST00000676173.1:n.1108C>T
ENST00000676228.1:c.*387C>T	ENSP00000502375.1:n.*387C>T
ENST00000676240.1:n.4C>T
ENST00000676400.1:n.4C>T
ENST00000255078.7:c.1064C>T	ENSP00000255078.3:p.Ala355Val
ENST00000568742.1:n.174C>T
NM_002180.2:c.1064C>T , LRG_250t1:c.1064C>T	NP_002171.2:p.Ala355Val
XM_005273974.2:c.53C>T	XP_005274031.1:p.Ala18Val
XM_005273976.1:c.1064C>T	XP_005274033.1:p.Ala355Val
XR_247198.1:n.1166C>T
XR_949903.1:n.1166C>T
XM_005273976.2:c.1064C>T	XP_005274033.1:p.Ala355Val
XM_017017669.2:c.53C>T	XP_016873158.1:p.Ala18Val
XM_017017670.2:c.53C>T	XP_016873159.1:p.Ala18Val
XM_017017671.2:c.1064C>T	XP_016873160.1:p.Ala355Val
XR_949903.3:n.1162C>T
NM_002180.3:c.1064C>T MANE Select	NP_002171.2:p.Ala355Val