Canonical Allele Identifier: CA381653253

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704253C>G (hg19) ; chr11:g.68936785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936785C>G , CM000673.2:g.68936785C>G	GRCh38
NC_000011.9:g.68704253C>G , CM000673.1:g.68704253C>G	GRCh37
NC_000011.8:g.68460829C>G	NCBI36
NG_007976.1:g.37935C>G , LRG_250:g.37935C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2305C>G MANE Select	ENSP00000255078.4:p.His769Asp
ENST00000674675.1:c.549C>G
ENST00000674878.1:c.547+2C>G
ENST00000674955.1:c.*1022C>G	ENSP00000502463.1:n.*1022C>G
ENST00000675118.1:c.1793C>G
ENST00000675389.1:n.580C>G
ENST00000675615.1:c.2305C>G	ENSP00000502413.1:p.His769Asp
ENST00000675648.1:n.1680C>G
ENST00000675916.1:c.549C>G
ENST00000676173.1:n.3050C>G
ENST00000676182.1:c.736C>G
ENST00000676228.1:c.*1628C>G	ENSP00000502375.1:n.*1628C>G
ENST00000255078.7:c.2305C>G	ENSP00000255078.3:p.His769Asp
ENST00000539064.5:n.2064C>G
ENST00000543739.5:n.1298C>G
NM_002180.2:c.2305C>G , LRG_250t1:c.2305C>G	NP_002171.2:p.His769Asp
XM_005273974.2:c.1294C>G	XP_005274031.1:p.His432Asp
XM_005273975.2:c.1177C>G	XP_005274032.1:p.His393Asp
XM_011544994.1:c.1072C>G	XP_011543296.1:p.His358Asp
XR_949903.1:n.2407C>G
XM_005273975.3:c.1177C>G	XP_005274032.1:p.His393Asp
XM_017017669.2:c.1294C>G	XP_016873158.1:p.His432Asp
XM_017017670.2:c.1294C>G	XP_016873159.1:p.His432Asp
XR_949903.3:n.2403C>G
NM_002180.3:c.2305C>G MANE Select	NP_002171.2:p.His769Asp