Canonical Allele Identifier: CA381651290

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68935401-T-C
• MyVariant Identifiers: chr11:g.68702869T>C (hg19) ; chr11:g.68935401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68935401T>C , CM000673.2:g.68935401T>C	GRCh38
NC_000011.9:g.68702869T>C , CM000673.1:g.68702869T>C	GRCh37
NC_000011.8:g.68459445T>C	NCBI36
NG_007976.1:g.36551T>C , LRG_250:g.36551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1735T>C MANE Select	ENSP00000255078.4:p.Phe579Leu
ENST00000674955.1:c.*452T>C	ENSP00000502463.1:n.*452T>C
ENST00000675118.1:c.1223T>C
ENST00000675615.1:c.1735T>C	ENSP00000502413.1:p.Phe579Leu
ENST00000675648.1:n.1110T>C
ENST00000676173.1:n.2480T>C
ENST00000676182.1:c.166T>C
ENST00000676228.1:c.*1058T>C	ENSP00000502375.1:n.*1058T>C
ENST00000255078.7:c.1735T>C	ENSP00000255078.3:p.Phe579Leu
ENST00000539064.5:n.1494T>C
ENST00000541229.5:n.430T>C
ENST00000543739.5:n.750-836T>C
ENST00000545475.1:n.331T>C
NM_002180.2:c.1735T>C , LRG_250t1:c.1735T>C	NP_002171.2:p.Phe579Leu
XM_005273974.2:c.724T>C	XP_005274031.1:p.Phe242Leu
XM_005273975.2:c.607T>C	XP_005274032.1:p.Phe203Leu
XM_011544994.1:c.502T>C	XP_011543296.1:p.Phe168Leu
XR_949903.1:n.1837T>C
XM_005273975.3:c.607T>C	XP_005274032.1:p.Phe203Leu
XM_017017669.2:c.724T>C	XP_016873158.1:p.Phe242Leu
XM_017017670.2:c.724T>C	XP_016873159.1:p.Phe242Leu
XM_017017671.2:c.*62T>C	XP_016873160.1:n.*62T>C
XR_949903.3:n.1833T>C
NM_002180.3:c.1735T>C MANE Select	NP_002171.2:p.Phe579Leu