Canonical Allele Identifier: CA381650317

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701369A>C (hg19) ; chr11:g.68933901A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933901A>C , CM000673.2:g.68933901A>C	GRCh38
NC_000011.9:g.68701369A>C , CM000673.1:g.68701369A>C	GRCh37
NC_000011.8:g.68457945A>C	NCBI36
NG_007976.1:g.35051A>C , LRG_250:g.35051A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1525A>C MANE Select	ENSP00000255078.4:p.Lys509Gln
ENST00000674955.1:c.*242A>C	ENSP00000502463.1:n.*242A>C
ENST00000675118.1:c.1013A>C
ENST00000675205.1:n.183+420A>C
ENST00000675615.1:c.1525A>C	ENSP00000502413.1:p.Lys509Gln
ENST00000675648.1:n.900A>C
ENST00000675997.1:n.113-563A>C
ENST00000676173.1:n.2270A>C
ENST00000676228.1:c.*848A>C	ENSP00000502375.1:n.*848A>C
ENST00000255078.7:c.1525A>C	ENSP00000255078.3:p.Lys509Gln
ENST00000537458.5:n.642A>C
ENST00000539064.5:n.1284A>C
ENST00000541229.5:n.220A>C
ENST00000543739.5:n.642A>C
NM_002180.2:c.1525A>C , LRG_250t1:c.1525A>C	NP_002171.2:p.Lys509Gln
XM_005273974.2:c.514A>C	XP_005274031.1:p.Lys172Gln
XM_005273975.2:c.397A>C	XP_005274032.1:p.Lys133Gln
XM_011544994.1:c.292A>C	XP_011543296.1:p.Lys98Gln
XR_949903.1:n.1627A>C
XM_005273975.3:c.397A>C	XP_005274032.1:p.Lys133Gln
XM_017017669.2:c.514A>C	XP_016873158.1:p.Lys172Gln
XM_017017670.2:c.514A>C	XP_016873159.1:p.Lys172Gln
XM_017017671.2:c.1525A>C	XP_016873160.1:p.Lys509Gln
XR_949903.3:n.1623A>C
NM_002180.3:c.1525A>C MANE Select	NP_002171.2:p.Lys509Gln