Canonical Allele Identifier: CA381652930

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1167636533
• gnomAD v2: 11-68704107-T-C
• gnomAD v4: 11-68936639-T-C
• MyVariant Identifiers: chr11:g.68704107T>C (hg19) ; chr11:g.68936639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936639T>C , CM000673.2:g.68936639T>C	GRCh38
NC_000011.9:g.68704107T>C , CM000673.1:g.68704107T>C	GRCh37
NC_000011.8:g.68460683T>C	NCBI36
NG_007976.1:g.37789T>C , LRG_250:g.37789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2159T>C MANE Select	ENSP00000255078.4:p.Val720Ala
ENST00000674675.1:c.403T>C
ENST00000674878.1:c.403T>C
ENST00000674955.1:c.*876T>C	ENSP00000502463.1:n.*876T>C
ENST00000675118.1:c.1647T>C
ENST00000675389.1:n.434T>C
ENST00000675615.1:c.2159T>C	ENSP00000502413.1:p.Val720Ala
ENST00000675648.1:n.1534T>C
ENST00000675916.1:c.403T>C
ENST00000676173.1:n.2904T>C
ENST00000676182.1:c.590T>C
ENST00000676228.1:c.*1482T>C	ENSP00000502375.1:n.*1482T>C
ENST00000255078.7:c.2159T>C	ENSP00000255078.3:p.Val720Ala
ENST00000539064.5:n.1918T>C
ENST00000543739.5:n.1152T>C
NM_002180.2:c.2159T>C , LRG_250t1:c.2159T>C	NP_002171.2:p.Val720Ala
XM_005273974.2:c.1148T>C	XP_005274031.1:p.Val383Ala
XM_005273975.2:c.1031T>C	XP_005274032.1:p.Val344Ala
XM_011544994.1:c.926T>C	XP_011543296.1:p.Val309Ala
XR_949903.1:n.2261T>C
XM_005273975.3:c.1031T>C	XP_005274032.1:p.Val344Ala
XM_017017669.2:c.1148T>C	XP_016873158.1:p.Val383Ala
XM_017017670.2:c.1148T>C	XP_016873159.1:p.Val383Ala
XR_949903.3:n.2257T>C
NM_002180.3:c.2159T>C MANE Select	NP_002171.2:p.Val720Ala