Canonical Allele Identifier: CA381651300

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68702871C>G (hg19) ; chr11:g.68935403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68935403C>G , CM000673.2:g.68935403C>G	GRCh38
NC_000011.9:g.68702871C>G , CM000673.1:g.68702871C>G	GRCh37
NC_000011.8:g.68459447C>G	NCBI36
NG_007976.1:g.36553C>G , LRG_250:g.36553C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1737C>G MANE Select	ENSP00000255078.4:p.Phe579Leu
ENST00000674955.1:c.*454C>G	ENSP00000502463.1:n.*454C>G
ENST00000675118.1:c.1225C>G
ENST00000675615.1:c.1737C>G	ENSP00000502413.1:p.Phe579Leu
ENST00000675648.1:n.1112C>G
ENST00000676173.1:n.2482C>G
ENST00000676182.1:c.168C>G
ENST00000676228.1:c.*1060C>G	ENSP00000502375.1:n.*1060C>G
ENST00000255078.7:c.1737C>G	ENSP00000255078.3:p.Phe579Leu
ENST00000539064.5:n.1496C>G
ENST00000541229.5:n.432C>G
ENST00000543739.5:n.750-834C>G
ENST00000545475.1:n.333C>G
NM_002180.2:c.1737C>G , LRG_250t1:c.1737C>G	NP_002171.2:p.Phe579Leu
XM_005273974.2:c.726C>G	XP_005274031.1:p.Phe242Leu
XM_005273975.2:c.609C>G	XP_005274032.1:p.Phe203Leu
XM_011544994.1:c.504C>G	XP_011543296.1:p.Phe168Leu
XR_949903.1:n.1839C>G
XM_005273975.3:c.609C>G	XP_005274032.1:p.Phe203Leu
XM_017017669.2:c.726C>G	XP_016873158.1:p.Phe242Leu
XM_017017670.2:c.726C>G	XP_016873159.1:p.Phe242Leu
XM_017017671.2:c.*64C>G	XP_016873160.1:n.*64C>G
XR_949903.3:n.1835C>G
NM_002180.3:c.1737C>G MANE Select	NP_002171.2:p.Phe579Leu