Canonical Allele Identifier: CA6153269

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs534344339
• ExAC: 11:68675710 T / G
• gnomAD v2: 11-68675710-T-G
• gnomAD v3: 11-68908242-T-G
• gnomAD v4: 11-68908242-T-G
• MyVariant Identifiers: chr11:g.68675710T>G (hg19) ; chr11:g.68908242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908242T>G , CM000673.2:g.68908242T>G	GRCh38
NC_000011.9:g.68675710T>G , CM000673.1:g.68675710T>G	GRCh37
NC_000011.8:g.68432286T>G	NCBI36
NG_007976.1:g.9392T>G , LRG_250:g.9392T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.354T>G MANE Select	ENSP00000255078.4:p.Phe118Leu
ENST00000539224.2:c.317T>G
ENST00000674583.1:c.317T>G
ENST00000674597.1:c.165T>G
ENST00000674955.1:c.354T>G	ENSP00000502463.1:p.Phe118Leu
ENST00000675142.1:n.317T>G
ENST00000675469.1:c.230T>G
ENST00000675615.1:c.354T>G	ENSP00000502413.1:p.Phe118Leu
ENST00000675674.1:n.317T>G
ENST00000675873.1:c.317T>G
ENST00000676173.1:n.398T>G
ENST00000676228.1:c.354T>G	ENSP00000502375.1:p.Phe118Leu
ENST00000255078.7:c.354T>G	ENSP00000255078.3:p.Phe118Leu
ENST00000539224.1:c.354T>G	ENSP00000440465.1:p.Phe118Leu
ENST00000544541.1:c.*94T>G	ENSP00000443343.1:n.*94T>G
NM_002180.2:c.354T>G , LRG_250t1:c.354T>G	NP_002171.2:p.Phe118Leu
XM_005273974.2:c.-658T>G	XP_005274031.1:n.-658T>G
XM_005273976.1:c.354T>G	XP_005274033.1:p.Phe118Leu
XR_247198.1:n.456T>G
XR_949903.1:n.456T>G
XM_005273976.2:c.354T>G	XP_005274033.1:p.Phe118Leu
XM_017017669.2:c.-560T>G	XP_016873158.1:n.-560T>G
XM_017017671.2:c.354T>G	XP_016873160.1:p.Phe118Leu
XR_949903.3:n.452T>G
NM_002180.3:c.354T>G MANE Select	NP_002171.2:p.Phe118Leu