Canonical Allele Identifier: CA381643254

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68675735A>T (hg19) ; chr11:g.68908267A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908267A>T , CM000673.2:g.68908267A>T	GRCh38
NC_000011.9:g.68675735A>T , CM000673.1:g.68675735A>T	GRCh37
NC_000011.8:g.68432311A>T	NCBI36
NG_007976.1:g.9417A>T , LRG_250:g.9417A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.379A>T MANE Select	ENSP00000255078.4:p.Ser127Cys
ENST00000539224.2:c.342A>T
ENST00000674583.1:c.342A>T
ENST00000674597.1:c.190A>T
ENST00000674955.1:c.379A>T	ENSP00000502463.1:p.Ser127Cys
ENST00000675142.1:n.342A>T
ENST00000675469.1:c.255A>T
ENST00000675615.1:c.379A>T	ENSP00000502413.1:p.Ser127Cys
ENST00000675674.1:n.342A>T
ENST00000675873.1:c.342A>T
ENST00000676173.1:n.423A>T
ENST00000676228.1:c.379A>T	ENSP00000502375.1:p.Ser127Cys
ENST00000255078.7:c.379A>T	ENSP00000255078.3:p.Ser127Cys
ENST00000539224.1:c.379A>T	ENSP00000440465.1:p.Ser127Cys
ENST00000544541.1:c.*119A>T	ENSP00000443343.1:n.*119A>T
NM_002180.2:c.379A>T , LRG_250t1:c.379A>T	NP_002171.2:p.Ser127Cys
XM_005273974.2:c.-633A>T	XP_005274031.1:n.-633A>T
XM_005273976.1:c.379A>T	XP_005274033.1:p.Ser127Cys
XR_247198.1:n.481A>T
XR_949903.1:n.481A>T
XM_005273976.2:c.379A>T	XP_005274033.1:p.Ser127Cys
XM_017017669.2:c.-535A>T	XP_016873158.1:n.-535A>T
XM_017017671.2:c.379A>T	XP_016873160.1:p.Ser127Cys
XR_949903.3:n.477A>T
NM_002180.3:c.379A>T MANE Select	NP_002171.2:p.Ser127Cys