Canonical Allele Identifier: CA381643179

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68675702G>C (hg19) ; chr11:g.68908234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908234G>C , CM000673.2:g.68908234G>C	GRCh38
NC_000011.9:g.68675702G>C , CM000673.1:g.68675702G>C	GRCh37
NC_000011.8:g.68432278G>C	NCBI36
NG_007976.1:g.9384G>C , LRG_250:g.9384G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.346G>C MANE Select	ENSP00000255078.4:p.Val116Leu
ENST00000539224.2:c.309G>C
ENST00000674583.1:c.309G>C
ENST00000674597.1:c.157G>C
ENST00000674955.1:c.346G>C	ENSP00000502463.1:p.Val116Leu
ENST00000675142.1:n.309G>C
ENST00000675469.1:c.222G>C
ENST00000675615.1:c.346G>C	ENSP00000502413.1:p.Val116Leu
ENST00000675674.1:n.309G>C
ENST00000675873.1:c.309G>C
ENST00000676173.1:n.390G>C
ENST00000676228.1:c.346G>C	ENSP00000502375.1:p.Val116Leu
ENST00000255078.7:c.346G>C	ENSP00000255078.3:p.Val116Leu
ENST00000539224.1:c.346G>C	ENSP00000440465.1:p.Val116Leu
ENST00000544541.1:c.*86G>C	ENSP00000443343.1:n.*86G>C
NM_002180.2:c.346G>C , LRG_250t1:c.346G>C	NP_002171.2:p.Val116Leu
XM_005273974.2:c.-666G>C	XP_005274031.1:n.-666G>C
XM_005273976.1:c.346G>C	XP_005274033.1:p.Val116Leu
XR_247198.1:n.448G>C
XR_949903.1:n.448G>C
XM_005273976.2:c.346G>C	XP_005274033.1:p.Val116Leu
XM_017017669.2:c.-568G>C	XP_016873158.1:n.-568G>C
XM_017017671.2:c.346G>C	XP_016873160.1:p.Val116Leu
XR_949903.3:n.444G>C
NM_002180.3:c.346G>C MANE Select	NP_002171.2:p.Val116Leu