Canonical Allele Identifier: CA381649829

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701301T>C (hg19) ; chr11:g.68933833T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933833T>C , CM000673.2:g.68933833T>C	GRCh38
NC_000011.9:g.68701301T>C , CM000673.1:g.68701301T>C	GRCh37
NC_000011.8:g.68457877T>C	NCBI36
NG_007976.1:g.34983T>C , LRG_250:g.34983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1457T>C MANE Select	ENSP00000255078.4:p.Val486Ala
ENST00000674955.1:c.*174T>C	ENSP00000502463.1:n.*174T>C
ENST00000675118.1:c.945T>C
ENST00000675205.1:n.183+352T>C
ENST00000675615.1:c.1457T>C	ENSP00000502413.1:p.Val486Ala
ENST00000675648.1:n.832T>C
ENST00000675997.1:n.113-631T>C
ENST00000676173.1:n.2202T>C
ENST00000676228.1:c.*780T>C	ENSP00000502375.1:n.*780T>C
ENST00000255078.7:c.1457T>C	ENSP00000255078.3:p.Val486Ala
ENST00000537458.5:n.574T>C
ENST00000539064.5:n.1216T>C
ENST00000541229.5:n.152T>C
ENST00000543739.5:n.574T>C
NM_002180.2:c.1457T>C , LRG_250t1:c.1457T>C	NP_002171.2:p.Val486Ala
XM_005273974.2:c.446T>C	XP_005274031.1:p.Val149Ala
XM_005273975.2:c.329T>C	XP_005274032.1:p.Val110Ala
XM_011544994.1:c.224T>C	XP_011543296.1:p.Val75Ala
XR_949903.1:n.1559T>C
XM_005273975.3:c.329T>C	XP_005274032.1:p.Val110Ala
XM_017017669.2:c.446T>C	XP_016873158.1:p.Val149Ala
XM_017017670.2:c.446T>C	XP_016873159.1:p.Val149Ala
XM_017017671.2:c.1457T>C	XP_016873160.1:p.Val486Ala
XR_949903.3:n.1555T>C
NM_002180.3:c.1457T>C MANE Select	NP_002171.2:p.Val486Ala