Canonical Allele Identifier: CA381651551

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703744T>C (hg19) ; chr11:g.68936276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936276T>C , CM000673.2:g.68936276T>C	GRCh38
NC_000011.9:g.68703744T>C , CM000673.1:g.68703744T>C	GRCh37
NC_000011.8:g.68460320T>C	NCBI36
NG_007976.1:g.37426T>C , LRG_250:g.37426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1796T>C MANE Select	ENSP00000255078.4:p.Val599Ala
ENST00000674675.1:c.40T>C
ENST00000674878.1:c.40T>C
ENST00000674955.1:c.*513T>C	ENSP00000502463.1:n.*513T>C
ENST00000675118.1:c.1284T>C
ENST00000675389.1:n.71T>C
ENST00000675615.1:c.1796T>C	ENSP00000502413.1:p.Val599Ala
ENST00000675648.1:n.1171T>C
ENST00000675916.1:c.40T>C
ENST00000676173.1:n.2541T>C
ENST00000676182.1:c.227T>C
ENST00000676228.1:c.*1119T>C	ENSP00000502375.1:n.*1119T>C
ENST00000255078.7:c.1796T>C	ENSP00000255078.3:p.Val599Ala
ENST00000539064.5:n.1555T>C
ENST00000541229.5:n.491T>C
ENST00000543739.5:n.789T>C
ENST00000545475.1:n.392T>C
NM_002180.2:c.1796T>C , LRG_250t1:c.1796T>C	NP_002171.2:p.Val599Ala
XM_005273974.2:c.785T>C	XP_005274031.1:p.Val262Ala
XM_005273975.2:c.668T>C	XP_005274032.1:p.Val223Ala
XM_011544994.1:c.563T>C	XP_011543296.1:p.Val188Ala
XR_949903.1:n.1898T>C
XM_005273975.3:c.668T>C	XP_005274032.1:p.Val223Ala
XM_017017669.2:c.785T>C	XP_016873158.1:p.Val262Ala
XM_017017670.2:c.785T>C	XP_016873159.1:p.Val262Ala
XR_949903.3:n.1894T>C
NM_002180.3:c.1796T>C MANE Select	NP_002171.2:p.Val599Ala