Canonical Allele Identifier: CA381652844

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704065C>T (hg19) ; chr11:g.68936597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936597C>T , CM000673.2:g.68936597C>T	GRCh38
NC_000011.9:g.68704065C>T , CM000673.1:g.68704065C>T	GRCh37
NC_000011.8:g.68460641C>T	NCBI36
NG_007976.1:g.37747C>T , LRG_250:g.37747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2117C>T MANE Select	ENSP00000255078.4:p.Ala706Val
ENST00000674675.1:c.361C>T
ENST00000674878.1:c.361C>T
ENST00000674955.1:c.*834C>T	ENSP00000502463.1:n.*834C>T
ENST00000675118.1:c.1605C>T
ENST00000675389.1:n.392C>T
ENST00000675615.1:c.2117C>T	ENSP00000502413.1:p.Ala706Val
ENST00000675648.1:n.1492C>T
ENST00000675916.1:c.361C>T
ENST00000676173.1:n.2862C>T
ENST00000676182.1:c.548C>T
ENST00000676228.1:c.*1440C>T	ENSP00000502375.1:n.*1440C>T
ENST00000255078.7:c.2117C>T	ENSP00000255078.3:p.Ala706Val
ENST00000539064.5:n.1876C>T
ENST00000543739.5:n.1110C>T
NM_002180.2:c.2117C>T , LRG_250t1:c.2117C>T	NP_002171.2:p.Ala706Val
XM_005273974.2:c.1106C>T	XP_005274031.1:p.Ala369Val
XM_005273975.2:c.989C>T	XP_005274032.1:p.Ala330Val
XM_011544994.1:c.884C>T	XP_011543296.1:p.Ala295Val
XR_949903.1:n.2219C>T
XM_005273975.3:c.989C>T	XP_005274032.1:p.Ala330Val
XM_017017669.2:c.1106C>T	XP_016873158.1:p.Ala369Val
XM_017017670.2:c.1106C>T	XP_016873159.1:p.Ala369Val
XR_949903.3:n.2215C>T
NM_002180.3:c.2117C>T MANE Select	NP_002171.2:p.Ala706Val