Canonical Allele Identifier: CA381651796

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703819A>C (hg19) ; chr11:g.68936351A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936351A>C , CM000673.2:g.68936351A>C	GRCh38
NC_000011.9:g.68703819A>C , CM000673.1:g.68703819A>C	GRCh37
NC_000011.8:g.68460395A>C	NCBI36
NG_007976.1:g.37501A>C , LRG_250:g.37501A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1871A>C MANE Select	ENSP00000255078.4:p.Lys624Thr
ENST00000674675.1:c.115A>C
ENST00000674878.1:c.115A>C
ENST00000674955.1:c.*588A>C	ENSP00000502463.1:n.*588A>C
ENST00000675118.1:c.1359A>C
ENST00000675389.1:n.146A>C
ENST00000675615.1:c.1871A>C	ENSP00000502413.1:p.Lys624Thr
ENST00000675648.1:n.1246A>C
ENST00000675916.1:c.115A>C
ENST00000676173.1:n.2616A>C
ENST00000676182.1:c.302A>C
ENST00000676228.1:c.*1194A>C	ENSP00000502375.1:n.*1194A>C
ENST00000255078.7:c.1871A>C	ENSP00000255078.3:p.Lys624Thr
ENST00000539064.5:n.1630A>C
ENST00000543739.5:n.864A>C
ENST00000545475.1:n.467A>C
NM_002180.2:c.1871A>C , LRG_250t1:c.1871A>C	NP_002171.2:p.Lys624Thr
XM_005273974.2:c.860A>C	XP_005274031.1:p.Lys287Thr
XM_005273975.2:c.743A>C	XP_005274032.1:p.Lys248Thr
XM_011544994.1:c.638A>C	XP_011543296.1:p.Lys213Thr
XR_949903.1:n.1973A>C
XM_005273975.3:c.743A>C	XP_005274032.1:p.Lys248Thr
XM_017017669.2:c.860A>C	XP_016873158.1:p.Lys287Thr
XM_017017670.2:c.860A>C	XP_016873159.1:p.Lys287Thr
XR_949903.3:n.1969A>C
NM_002180.3:c.1871A>C MANE Select	NP_002171.2:p.Lys624Thr