Canonical Allele Identifier: CA475204606

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937081A>G , CM000673.2:g.68937081A>G	GRCh38
NC_000011.9:g.68704549A>G , CM000673.1:g.68704549A>G	GRCh37
NC_000011.8:g.68461125A>G	NCBI36
NG_007976.1:g.38231A>G , LRG_250:g.38231A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.2601A>G MANE Select	NP_002171.2:p.Lys867=
ENST00000255078.8:c.2601A>G MANE Select	ENSP00000255078.4:p.Lys867=
NM_002180.2:c.2601A>G , LRG_250t1:c.2601A>G	NP_002171.2:p.Lys867=
ENST00000255078.7:c.2601A>G	ENSP00000255078.3:p.Lys867=
ENST00000543739.5:n.1594A>G
ENST00000674675.1:c.746A>G
ENST00000674878.1:c.706A>G
ENST00000675118.1:c.2089A>G
ENST00000675389.1:n.876A>G
ENST00000675615.1:c.2601A>G	ENSP00000502413.1:p.Lys867=
ENST00000675648.1:n.1976A>G
ENST00000675916.1:c.845A>G
ENST00000676173.1:n.3346A>G
ENST00000676182.1:c.1032A>G
ENST00000676228.1:c.*1924A>G	ENSP00000502375.1:n.*1924A>G
XM_005273974.2:c.1590A>G	XP_005274031.1:p.Lys530=
XM_005273975.2:c.1473A>G	XP_005274032.1:p.Lys491=
XM_005273975.3:c.1473A>G	XP_005274032.1:p.Lys491=
XM_011544994.1:c.1368A>G	XP_011543296.1:p.Lys456=
XM_017017669.2:c.1590A>G	XP_016873158.1:p.Lys530=
XM_017017670.2:c.1590A>G	XP_016873159.1:p.Lys530=
XR_949903.1:n.2703A>G
XR_949903.3:n.2699A>G