Canonical Allele Identifier: CA381647517

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68696722G>T (hg19) ; chr11:g.68929254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929254G>T , CM000673.2:g.68929254G>T	GRCh38
NC_000011.9:g.68696722G>T , CM000673.1:g.68696722G>T	GRCh37
NC_000011.8:g.68453298G>T	NCBI36
NG_007976.1:g.30404G>T , LRG_250:g.30404G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1132G>T MANE Select	ENSP00000255078.4:p.Ala378Ser
ENST00000674698.1:n.72G>T
ENST00000674745.1:c.297G>T	ENSP00000502738.1:n.297G>T
ENST00000674775.1:n.332G>T
ENST00000674955.1:c.1132G>T	ENSP00000502463.1:p.Ala378Ser
ENST00000675118.1:c.620G>T
ENST00000675305.1:c.452G>T	ENSP00000502365.1:n.452G>T
ENST00000675310.1:n.72G>T
ENST00000675493.1:n.293G>T
ENST00000675615.1:c.1132G>T	ENSP00000502413.1:p.Ala378Ser
ENST00000675648.1:n.507G>T
ENST00000675684.1:c.259G>T	ENSP00000502192.1:p.Ala87Ser
ENST00000675755.1:n.72G>T
ENST00000676083.1:n.72G>T
ENST00000676173.1:n.1176G>T
ENST00000676228.1:c.*455G>T	ENSP00000502375.1:n.*455G>T
ENST00000676240.1:n.72G>T
ENST00000676400.1:n.72G>T
ENST00000255078.7:c.1132G>T	ENSP00000255078.3:p.Ala378Ser
ENST00000568742.1:n.242G>T
NM_002180.2:c.1132G>T , LRG_250t1:c.1132G>T	NP_002171.2:p.Ala378Ser
XM_005273974.2:c.121G>T	XP_005274031.1:p.Ala41Ser
XM_005273976.1:c.1132G>T	XP_005274033.1:p.Ala378Ser
XR_247198.1:n.1234G>T
XR_949903.1:n.1234G>T
XM_005273976.2:c.1132G>T	XP_005274033.1:p.Ala378Ser
XM_017017669.2:c.121G>T	XP_016873158.1:p.Ala41Ser
XM_017017670.2:c.121G>T	XP_016873159.1:p.Ala41Ser
XM_017017671.2:c.1132G>T	XP_016873160.1:p.Ala378Ser
XR_949903.3:n.1230G>T
NM_002180.3:c.1132G>T MANE Select	NP_002171.2:p.Ala378Ser