Canonical Allele Identifier: CA381649697

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701280C>G (hg19) ; chr11:g.68933812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933812C>G , CM000673.2:g.68933812C>G	GRCh38
NC_000011.9:g.68701280C>G , CM000673.1:g.68701280C>G	GRCh37
NC_000011.8:g.68457856C>G	NCBI36
NG_007976.1:g.34962C>G , LRG_250:g.34962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1436C>G MANE Select	ENSP00000255078.4:p.Ala479Gly
ENST00000674955.1:c.*153C>G	ENSP00000502463.1:n.*153C>G
ENST00000675118.1:c.924C>G
ENST00000675205.1:n.183+331C>G
ENST00000675615.1:c.1436C>G	ENSP00000502413.1:p.Ala479Gly
ENST00000675648.1:n.811C>G
ENST00000675997.1:n.113-652C>G
ENST00000676173.1:n.2181C>G
ENST00000676228.1:c.*759C>G	ENSP00000502375.1:n.*759C>G
ENST00000255078.7:c.1436C>G	ENSP00000255078.3:p.Ala479Gly
ENST00000537458.5:n.553C>G
ENST00000539064.5:n.1195C>G
ENST00000541229.5:n.131C>G
ENST00000543739.5:n.553C>G
NM_002180.2:c.1436C>G , LRG_250t1:c.1436C>G	NP_002171.2:p.Ala479Gly
XM_005273974.2:c.425C>G	XP_005274031.1:p.Ala142Gly
XM_005273975.2:c.308C>G	XP_005274032.1:p.Ala103Gly
XM_011544994.1:c.203C>G	XP_011543296.1:p.Ala68Gly
XR_949903.1:n.1538C>G
XM_005273975.3:c.308C>G	XP_005274032.1:p.Ala103Gly
XM_017017669.2:c.425C>G	XP_016873158.1:p.Ala142Gly
XM_017017670.2:c.425C>G	XP_016873159.1:p.Ala142Gly
XM_017017671.2:c.1436C>G	XP_016873160.1:p.Ala479Gly
XR_949903.3:n.1534C>G
NM_002180.3:c.1436C>G MANE Select	NP_002171.2:p.Ala479Gly