Canonical Allele Identifier: CA381651566

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703750T>C (hg19) ; chr11:g.68936282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936282T>C , CM000673.2:g.68936282T>C	GRCh38
NC_000011.9:g.68703750T>C , CM000673.1:g.68703750T>C	GRCh37
NC_000011.8:g.68460326T>C	NCBI36
NG_007976.1:g.37432T>C , LRG_250:g.37432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1802T>C MANE Select	ENSP00000255078.4:p.Val601Ala
ENST00000674675.1:c.46T>C
ENST00000674878.1:c.46T>C
ENST00000674955.1:c.*519T>C	ENSP00000502463.1:n.*519T>C
ENST00000675118.1:c.1290T>C
ENST00000675389.1:n.77T>C
ENST00000675615.1:c.1802T>C	ENSP00000502413.1:p.Val601Ala
ENST00000675648.1:n.1177T>C
ENST00000675916.1:c.46T>C
ENST00000676173.1:n.2547T>C
ENST00000676182.1:c.233T>C
ENST00000676228.1:c.*1125T>C	ENSP00000502375.1:n.*1125T>C
ENST00000255078.7:c.1802T>C	ENSP00000255078.3:p.Val601Ala
ENST00000539064.5:n.1561T>C
ENST00000541229.5:n.497T>C
ENST00000543739.5:n.795T>C
ENST00000545475.1:n.398T>C
NM_002180.2:c.1802T>C , LRG_250t1:c.1802T>C	NP_002171.2:p.Val601Ala
XM_005273974.2:c.791T>C	XP_005274031.1:p.Val264Ala
XM_005273975.2:c.674T>C	XP_005274032.1:p.Val225Ala
XM_011544994.1:c.569T>C	XP_011543296.1:p.Val190Ala
XR_949903.1:n.1904T>C
XM_005273975.3:c.674T>C	XP_005274032.1:p.Val225Ala
XM_017017669.2:c.791T>C	XP_016873158.1:p.Val264Ala
XM_017017670.2:c.791T>C	XP_016873159.1:p.Val264Ala
XR_949903.3:n.1900T>C
NM_002180.3:c.1802T>C MANE Select	NP_002171.2:p.Val601Ala