Canonical Allele Identifier: CA381644485

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682427T>C (hg19) ; chr11:g.68914959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914959T>C , CM000673.2:g.68914959T>C	GRCh38
NC_000011.9:g.68682427T>C , CM000673.1:g.68682427T>C	GRCh37
NC_000011.8:g.68439003T>C	NCBI36
NG_007976.1:g.16109T>C , LRG_250:g.16109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.848T>C MANE Select	ENSP00000255078.4:p.Val283Ala
ENST00000539224.2:c.977T>C
ENST00000674955.1:c.848T>C	ENSP00000502463.1:p.Val283Ala
ENST00000675118.1:c.195T>C
ENST00000675119.1:c.137T>C	ENSP00000501861.1:p.Val46Ala
ENST00000675305.1:c.137T>C	ENSP00000502365.1:p.Val46Ala
ENST00000675464.1:c.137T>C	ENSP00000502650.1:p.Val46Ala
ENST00000675615.1:c.848T>C	ENSP00000502413.1:p.Val283Ala
ENST00000675683.1:c.235T>C
ENST00000676173.1:n.892T>C
ENST00000676228.1:c.*171T>C	ENSP00000502375.1:n.*171T>C
ENST00000676239.1:n.162T>C
ENST00000255078.7:c.848T>C	ENSP00000255078.3:p.Val283Ala
NM_002180.2:c.848T>C , LRG_250t1:c.848T>C	NP_002171.2:p.Val283Ala
XM_005273974.2:c.-164T>C	XP_005274031.1:n.-164T>C
XM_005273976.1:c.848T>C	XP_005274033.1:p.Val283Ala
XR_247198.1:n.950T>C
XR_949903.1:n.950T>C
XM_005273976.2:c.848T>C	XP_005274033.1:p.Val283Ala
XM_017017669.2:c.-164T>C	XP_016873158.1:n.-164T>C
XM_017017670.2:c.-164T>C	XP_016873159.1:n.-164T>C
XM_017017671.2:c.848T>C	XP_016873160.1:p.Val283Ala
XR_949903.3:n.946T>C
NM_002180.3:c.848T>C MANE Select	NP_002171.2:p.Val283Ala