Canonical Allele Identifier: CA381653323

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936815-T-C
• MyVariant Identifiers: chr11:g.68704283T>C (hg19) ; chr11:g.68936815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936815T>C , CM000673.2:g.68936815T>C	GRCh38
NC_000011.9:g.68704283T>C , CM000673.1:g.68704283T>C	GRCh37
NC_000011.8:g.68460859T>C	NCBI36
NG_007976.1:g.37965T>C , LRG_250:g.37965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2335T>C MANE Select	ENSP00000255078.4:p.Phe779Leu
ENST00000674675.1:c.579T>C
ENST00000674878.1:c.547+32T>C
ENST00000674955.1:c.*1052T>C	ENSP00000502463.1:n.*1052T>C
ENST00000675118.1:c.1823T>C
ENST00000675389.1:n.610T>C
ENST00000675615.1:c.2335T>C	ENSP00000502413.1:p.Phe779Leu
ENST00000675648.1:n.1710T>C
ENST00000675916.1:c.579T>C
ENST00000676173.1:n.3080T>C
ENST00000676182.1:c.766T>C
ENST00000676228.1:c.*1658T>C	ENSP00000502375.1:n.*1658T>C
ENST00000255078.7:c.2335T>C	ENSP00000255078.3:p.Phe779Leu
ENST00000539064.5:n.2094T>C
ENST00000543739.5:n.1328T>C
NM_002180.2:c.2335T>C , LRG_250t1:c.2335T>C	NP_002171.2:p.Phe779Leu
XM_005273974.2:c.1324T>C	XP_005274031.1:p.Phe442Leu
XM_005273975.2:c.1207T>C	XP_005274032.1:p.Phe403Leu
XM_011544994.1:c.1102T>C	XP_011543296.1:p.Phe368Leu
XR_949903.1:n.2437T>C
XM_005273975.3:c.1207T>C	XP_005274032.1:p.Phe403Leu
XM_017017669.2:c.1324T>C	XP_016873158.1:p.Phe442Leu
XM_017017670.2:c.1324T>C	XP_016873159.1:p.Phe442Leu
XR_949903.3:n.2433T>C
NM_002180.3:c.2335T>C MANE Select	NP_002171.2:p.Phe779Leu