Canonical Allele Identifier: CA475200675

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 735274
• ClinVar RCV Id: RCV001441733
• dbSNP Id: rs1484199036
• gnomAD v2: 11-68700941-C-T
• gnomAD v4: 11-68933473-C-T
• MyVariant Identifiers: chr11:g.68700941C>T (hg19) ; chr11:g.68933473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933473C>T , CM000673.2:g.68933473C>T	GRCh38
NC_000011.9:g.68700941C>T , CM000673.1:g.68700941C>T	GRCh37
NC_000011.8:g.68457517C>T	NCBI36
NG_007976.1:g.34623C>T , LRG_250:g.34623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1410C>T MANE Select	ENSP00000255078.4:p.His470=
ENST00000536803.2:n.321C>T
ENST00000674955.1:c.*127C>T	ENSP00000502463.1:n.*127C>T
ENST00000675118.1:c.898C>T
ENST00000675205.1:n.175C>T
ENST00000675310.1:n.547C>T
ENST00000675615.1:c.1410C>T	ENSP00000502413.1:p.His470=
ENST00000675648.1:n.785C>T
ENST00000675997.1:n.113-991C>T
ENST00000676149.1:n.484C>T
ENST00000676173.1:n.2155C>T
ENST00000676228.1:c.*733C>T	ENSP00000502375.1:n.*733C>T
ENST00000255078.7:c.1410C>T	ENSP00000255078.3:p.His470=
ENST00000537458.5:n.527C>T
ENST00000539064.5:n.1169C>T
ENST00000543739.5:n.527C>T
NM_002180.2:c.1410C>T , LRG_250t1:c.1410C>T	NP_002171.2:p.His470=
XM_005273974.2:c.399C>T	XP_005274031.1:p.His133=
XM_005273975.2:c.282C>T	XP_005274032.1:p.His94=
XM_011544994.1:c.177C>T	XP_011543296.1:p.His59=
XR_949903.1:n.1512C>T
XM_005273975.3:c.282C>T	XP_005274032.1:p.His94=
XM_017017669.2:c.399C>T	XP_016873158.1:p.His133=
XM_017017670.2:c.399C>T	XP_016873159.1:p.His133=
XM_017017671.2:c.1410C>T	XP_016873160.1:p.His470=
XR_949903.3:n.1508C>T
NM_002180.3:c.1410C>T MANE Select	NP_002171.2:p.His470=