Canonical Allele Identifier: CA381652841

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704064G>C (hg19) ; chr11:g.68936596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936596G>C , CM000673.2:g.68936596G>C	GRCh38
NC_000011.9:g.68704064G>C , CM000673.1:g.68704064G>C	GRCh37
NC_000011.8:g.68460640G>C	NCBI36
NG_007976.1:g.37746G>C , LRG_250:g.37746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2116G>C MANE Select	ENSP00000255078.4:p.Ala706Pro
ENST00000674675.1:c.360G>C
ENST00000674878.1:c.360G>C
ENST00000674955.1:c.*833G>C	ENSP00000502463.1:n.*833G>C
ENST00000675118.1:c.1604G>C
ENST00000675389.1:n.391G>C
ENST00000675615.1:c.2116G>C	ENSP00000502413.1:p.Ala706Pro
ENST00000675648.1:n.1491G>C
ENST00000675916.1:c.360G>C
ENST00000676173.1:n.2861G>C
ENST00000676182.1:c.547G>C
ENST00000676228.1:c.*1439G>C	ENSP00000502375.1:n.*1439G>C
ENST00000255078.7:c.2116G>C	ENSP00000255078.3:p.Ala706Pro
ENST00000539064.5:n.1875G>C
ENST00000543739.5:n.1109G>C
NM_002180.2:c.2116G>C , LRG_250t1:c.2116G>C	NP_002171.2:p.Ala706Pro
XM_005273974.2:c.1105G>C	XP_005274031.1:p.Ala369Pro
XM_005273975.2:c.988G>C	XP_005274032.1:p.Ala330Pro
XM_011544994.1:c.883G>C	XP_011543296.1:p.Ala295Pro
XR_949903.1:n.2218G>C
XM_005273975.3:c.988G>C	XP_005274032.1:p.Ala330Pro
XM_017017669.2:c.1105G>C	XP_016873158.1:p.Ala369Pro
XM_017017670.2:c.1105G>C	XP_016873159.1:p.Ala369Pro
XR_949903.3:n.2214G>C
NM_002180.3:c.2116G>C MANE Select	NP_002171.2:p.Ala706Pro