Canonical Allele Identifier: CA6153809

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs775138577
• ExAC: 11:68703881 G / T
• gnomAD v2: 11-68703881-G-T
• gnomAD v4: 11-68936413-G-T
• COSMIC: COSM4146226
• MyVariant Identifiers: chr11:g.68703881G>T (hg19) ; chr11:g.68936413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936413G>T , CM000673.2:g.68936413G>T	GRCh38
NC_000011.9:g.68703881G>T , CM000673.1:g.68703881G>T	GRCh37
NC_000011.8:g.68460457G>T	NCBI36
NG_007976.1:g.37563G>T , LRG_250:g.37563G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1933G>T MANE Select	ENSP00000255078.4:p.Asp645Tyr
ENST00000674675.1:c.177G>T
ENST00000674878.1:c.177G>T
ENST00000674955.1:c.*650G>T	ENSP00000502463.1:n.*650G>T
ENST00000675118.1:c.1421G>T
ENST00000675389.1:n.208G>T
ENST00000675615.1:c.1933G>T	ENSP00000502413.1:p.Asp645Tyr
ENST00000675648.1:n.1308G>T
ENST00000675916.1:c.177G>T
ENST00000676173.1:n.2678G>T
ENST00000676182.1:c.364G>T
ENST00000676228.1:c.*1256G>T	ENSP00000502375.1:n.*1256G>T
ENST00000255078.7:c.1933G>T	ENSP00000255078.3:p.Asp645Tyr
ENST00000539064.5:n.1692G>T
ENST00000543739.5:n.926G>T
ENST00000545475.1:n.529G>T
NM_002180.2:c.1933G>T , LRG_250t1:c.1933G>T	NP_002171.2:p.Asp645Tyr
XM_005273974.2:c.922G>T	XP_005274031.1:p.Asp308Tyr
XM_005273975.2:c.805G>T	XP_005274032.1:p.Asp269Tyr
XM_011544994.1:c.700G>T	XP_011543296.1:p.Asp234Tyr
XR_949903.1:n.2035G>T
XM_005273975.3:c.805G>T	XP_005274032.1:p.Asp269Tyr
XM_017017669.2:c.922G>T	XP_016873158.1:p.Asp308Tyr
XM_017017670.2:c.922G>T	XP_016873159.1:p.Asp308Tyr
XR_949903.3:n.2031G>T
NM_002180.3:c.1933G>T MANE Select	NP_002171.2:p.Asp645Tyr