Canonical Allele Identifier: CA6153656

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs774157742
• ExAC: 11:68701324 G / T
• gnomAD v2: 11-68701324-G-T
• gnomAD v4: 11-68933856-G-T
• MyVariant Identifiers: chr11:g.68701324G>T (hg19) ; chr11:g.68933856G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933856G>T , CM000673.2:g.68933856G>T	GRCh38
NC_000011.9:g.68701324G>T , CM000673.1:g.68701324G>T	GRCh37
NC_000011.8:g.68457900G>T	NCBI36
NG_007976.1:g.35006G>T , LRG_250:g.35006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1480G>T MANE Select	ENSP00000255078.4:p.Ala494Ser
ENST00000674955.1:c.*197G>T	ENSP00000502463.1:n.*197G>T
ENST00000675118.1:c.968G>T
ENST00000675205.1:n.183+375G>T
ENST00000675615.1:c.1480G>T	ENSP00000502413.1:p.Ala494Ser
ENST00000675648.1:n.855G>T
ENST00000675997.1:n.113-608G>T
ENST00000676173.1:n.2225G>T
ENST00000676228.1:c.*803G>T	ENSP00000502375.1:n.*803G>T
ENST00000255078.7:c.1480G>T	ENSP00000255078.3:p.Ala494Ser
ENST00000537458.5:n.597G>T
ENST00000539064.5:n.1239G>T
ENST00000541229.5:n.175G>T
ENST00000543739.5:n.597G>T
NM_002180.2:c.1480G>T , LRG_250t1:c.1480G>T	NP_002171.2:p.Ala494Ser
XM_005273974.2:c.469G>T	XP_005274031.1:p.Ala157Ser
XM_005273975.2:c.352G>T	XP_005274032.1:p.Ala118Ser
XM_011544994.1:c.247G>T	XP_011543296.1:p.Ala83Ser
XR_949903.1:n.1582G>T
XM_005273975.3:c.352G>T	XP_005274032.1:p.Ala118Ser
XM_017017669.2:c.469G>T	XP_016873158.1:p.Ala157Ser
XM_017017670.2:c.469G>T	XP_016873159.1:p.Ala157Ser
XM_017017671.2:c.1480G>T	XP_016873160.1:p.Ala494Ser
XR_949903.3:n.1578G>T
NM_002180.3:c.1480G>T MANE Select	NP_002171.2:p.Ala494Ser