Canonical Allele Identifier: CA6153841

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs746334377
• ExAC: 11:68704064 G / T
• gnomAD v2: 11-68704064-G-T
• gnomAD v4: 11-68936596-G-T
• MyVariant Identifiers: chr11:g.68704064G>T (hg19) ; chr11:g.68936596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936596G>T , CM000673.2:g.68936596G>T	GRCh38
NC_000011.9:g.68704064G>T , CM000673.1:g.68704064G>T	GRCh37
NC_000011.8:g.68460640G>T	NCBI36
NG_007976.1:g.37746G>T , LRG_250:g.37746G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2116G>T MANE Select	ENSP00000255078.4:p.Ala706Ser
ENST00000674675.1:c.360G>T
ENST00000674878.1:c.360G>T
ENST00000674955.1:c.*833G>T	ENSP00000502463.1:n.*833G>T
ENST00000675118.1:c.1604G>T
ENST00000675389.1:n.391G>T
ENST00000675615.1:c.2116G>T	ENSP00000502413.1:p.Ala706Ser
ENST00000675648.1:n.1491G>T
ENST00000675916.1:c.360G>T
ENST00000676173.1:n.2861G>T
ENST00000676182.1:c.547G>T
ENST00000676228.1:c.*1439G>T	ENSP00000502375.1:n.*1439G>T
ENST00000255078.7:c.2116G>T	ENSP00000255078.3:p.Ala706Ser
ENST00000539064.5:n.1875G>T
ENST00000543739.5:n.1109G>T
NM_002180.2:c.2116G>T , LRG_250t1:c.2116G>T	NP_002171.2:p.Ala706Ser
XM_005273974.2:c.1105G>T	XP_005274031.1:p.Ala369Ser
XM_005273975.2:c.988G>T	XP_005274032.1:p.Ala330Ser
XM_011544994.1:c.883G>T	XP_011543296.1:p.Ala295Ser
XR_949903.1:n.2218G>T
XM_005273975.3:c.988G>T	XP_005274032.1:p.Ala330Ser
XM_017017669.2:c.1105G>T	XP_016873158.1:p.Ala369Ser
XM_017017670.2:c.1105G>T	XP_016873159.1:p.Ala369Ser
XR_949903.3:n.2214G>T
NM_002180.3:c.2116G>T MANE Select	NP_002171.2:p.Ala706Ser