Canonical Allele Identifier: CA381652032

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703878G>C (hg19) ; chr11:g.68936410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936410G>C , CM000673.2:g.68936410G>C	GRCh38
NC_000011.9:g.68703878G>C , CM000673.1:g.68703878G>C	GRCh37
NC_000011.8:g.68460454G>C	NCBI36
NG_007976.1:g.37560G>C , LRG_250:g.37560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1930G>C MANE Select	ENSP00000255078.4:p.Asp644His
ENST00000674675.1:c.174G>C
ENST00000674878.1:c.174G>C
ENST00000674955.1:c.*647G>C	ENSP00000502463.1:n.*647G>C
ENST00000675118.1:c.1418G>C
ENST00000675389.1:n.205G>C
ENST00000675615.1:c.1930G>C	ENSP00000502413.1:p.Asp644His
ENST00000675648.1:n.1305G>C
ENST00000675916.1:c.174G>C
ENST00000676173.1:n.2675G>C
ENST00000676182.1:c.361G>C
ENST00000676228.1:c.*1253G>C	ENSP00000502375.1:n.*1253G>C
ENST00000255078.7:c.1930G>C	ENSP00000255078.3:p.Asp644His
ENST00000539064.5:n.1689G>C
ENST00000543739.5:n.923G>C
ENST00000545475.1:n.526G>C
NM_002180.2:c.1930G>C , LRG_250t1:c.1930G>C	NP_002171.2:p.Asp644His
XM_005273974.2:c.919G>C	XP_005274031.1:p.Asp307His
XM_005273975.2:c.802G>C	XP_005274032.1:p.Asp268His
XM_011544994.1:c.697G>C	XP_011543296.1:p.Asp233His
XR_949903.1:n.2032G>C
XM_005273975.3:c.802G>C	XP_005274032.1:p.Asp268His
XM_017017669.2:c.919G>C	XP_016873158.1:p.Asp307His
XM_017017670.2:c.919G>C	XP_016873159.1:p.Asp307His
XR_949903.3:n.2028G>C
NM_002180.3:c.1930G>C MANE Select	NP_002171.2:p.Asp644His