Canonical Allele Identifier: CA381644471

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682421A>C (hg19) ; chr11:g.68914953A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914953A>C , CM000673.2:g.68914953A>C	GRCh38
NC_000011.9:g.68682421A>C , CM000673.1:g.68682421A>C	GRCh37
NC_000011.8:g.68438997A>C	NCBI36
NG_007976.1:g.16103A>C , LRG_250:g.16103A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.842A>C MANE Select	ENSP00000255078.4:p.Asp281Ala
ENST00000539224.2:c.971A>C
ENST00000674955.1:c.842A>C	ENSP00000502463.1:p.Asp281Ala
ENST00000675118.1:c.189A>C
ENST00000675119.1:c.131A>C	ENSP00000501861.1:p.Asp44Ala
ENST00000675305.1:c.131A>C	ENSP00000502365.1:p.Asp44Ala
ENST00000675464.1:c.131A>C	ENSP00000502650.1:p.Asp44Ala
ENST00000675615.1:c.842A>C	ENSP00000502413.1:p.Asp281Ala
ENST00000675683.1:c.229A>C
ENST00000676173.1:n.886A>C
ENST00000676228.1:c.*165A>C	ENSP00000502375.1:n.*165A>C
ENST00000676239.1:n.156A>C
ENST00000255078.7:c.842A>C	ENSP00000255078.3:p.Asp281Ala
NM_002180.2:c.842A>C , LRG_250t1:c.842A>C	NP_002171.2:p.Asp281Ala
XM_005273974.2:c.-170A>C	XP_005274031.1:n.-170A>C
XM_005273976.1:c.842A>C	XP_005274033.1:p.Asp281Ala
XR_247198.1:n.944A>C
XR_949903.1:n.944A>C
XM_005273976.2:c.842A>C	XP_005274033.1:p.Asp281Ala
XM_017017669.2:c.-170A>C	XP_016873158.1:n.-170A>C
XM_017017670.2:c.-170A>C	XP_016873159.1:n.-170A>C
XM_017017671.2:c.842A>C	XP_016873160.1:p.Asp281Ala
XR_949903.3:n.940A>C
NM_002180.3:c.842A>C MANE Select	NP_002171.2:p.Asp281Ala