Canonical Allele Identifier: CA381649631

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701271C>G (hg19) ; chr11:g.68933803C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933803C>G , CM000673.2:g.68933803C>G	GRCh38
NC_000011.9:g.68701271C>G , CM000673.1:g.68701271C>G	GRCh37
NC_000011.8:g.68457847C>G	NCBI36
NG_007976.1:g.34953C>G , LRG_250:g.34953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1427C>G MANE Select	ENSP00000255078.4:p.Pro476Arg
ENST00000674955.1:c.*144C>G	ENSP00000502463.1:n.*144C>G
ENST00000675118.1:c.915C>G
ENST00000675205.1:n.183+322C>G
ENST00000675615.1:c.1427C>G	ENSP00000502413.1:p.Pro476Arg
ENST00000675648.1:n.802C>G
ENST00000675997.1:n.113-661C>G
ENST00000676173.1:n.2172C>G
ENST00000676228.1:c.*750C>G	ENSP00000502375.1:n.*750C>G
ENST00000255078.7:c.1427C>G	ENSP00000255078.3:p.Pro476Arg
ENST00000537458.5:n.544C>G
ENST00000539064.5:n.1186C>G
ENST00000541229.5:n.122C>G
ENST00000543739.5:n.544C>G
NM_002180.2:c.1427C>G , LRG_250t1:c.1427C>G	NP_002171.2:p.Pro476Arg
XM_005273974.2:c.416C>G	XP_005274031.1:p.Pro139Arg
XM_005273975.2:c.299C>G	XP_005274032.1:p.Pro100Arg
XM_011544994.1:c.194C>G	XP_011543296.1:p.Pro65Arg
XR_949903.1:n.1529C>G
XM_005273975.3:c.299C>G	XP_005274032.1:p.Pro100Arg
XM_017017669.2:c.416C>G	XP_016873158.1:p.Pro139Arg
XM_017017670.2:c.416C>G	XP_016873159.1:p.Pro139Arg
XM_017017671.2:c.1427C>G	XP_016873160.1:p.Pro476Arg
XR_949903.3:n.1525C>G
NM_002180.3:c.1427C>G MANE Select	NP_002171.2:p.Pro476Arg