Canonical Allele Identifier: CA381652036

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703879A>C (hg19) ; chr11:g.68936411A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936411A>C , CM000673.2:g.68936411A>C	GRCh38
NC_000011.9:g.68703879A>C , CM000673.1:g.68703879A>C	GRCh37
NC_000011.8:g.68460455A>C	NCBI36
NG_007976.1:g.37561A>C , LRG_250:g.37561A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1931A>C MANE Select	ENSP00000255078.4:p.Asp644Ala
ENST00000674675.1:c.175A>C
ENST00000674878.1:c.175A>C
ENST00000674955.1:c.*648A>C	ENSP00000502463.1:n.*648A>C
ENST00000675118.1:c.1419A>C
ENST00000675389.1:n.206A>C
ENST00000675615.1:c.1931A>C	ENSP00000502413.1:p.Asp644Ala
ENST00000675648.1:n.1306A>C
ENST00000675916.1:c.175A>C
ENST00000676173.1:n.2676A>C
ENST00000676182.1:c.362A>C
ENST00000676228.1:c.*1254A>C	ENSP00000502375.1:n.*1254A>C
ENST00000255078.7:c.1931A>C	ENSP00000255078.3:p.Asp644Ala
ENST00000539064.5:n.1690A>C
ENST00000543739.5:n.924A>C
ENST00000545475.1:n.527A>C
NM_002180.2:c.1931A>C , LRG_250t1:c.1931A>C	NP_002171.2:p.Asp644Ala
XM_005273974.2:c.920A>C	XP_005274031.1:p.Asp307Ala
XM_005273975.2:c.803A>C	XP_005274032.1:p.Asp268Ala
XM_011544994.1:c.698A>C	XP_011543296.1:p.Asp233Ala
XR_949903.1:n.2033A>C
XM_005273975.3:c.803A>C	XP_005274032.1:p.Asp268Ala
XM_017017669.2:c.920A>C	XP_016873158.1:p.Asp307Ala
XM_017017670.2:c.920A>C	XP_016873159.1:p.Asp307Ala
XR_949903.3:n.2029A>C
NM_002180.3:c.1931A>C MANE Select	NP_002171.2:p.Asp644Ala