Canonical Allele Identifier: CA381651504

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936254-G-C
• MyVariant Identifiers: chr11:g.68703722G>C (hg19) ; chr11:g.68936254G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936254G>C , CM000673.2:g.68936254G>C	GRCh38
NC_000011.9:g.68703722G>C , CM000673.1:g.68703722G>C	GRCh37
NC_000011.8:g.68460298G>C	NCBI36
NG_007976.1:g.37404G>C , LRG_250:g.37404G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1774G>C MANE Select	ENSP00000255078.4:p.Ala592Pro
ENST00000674675.1:c.18G>C
ENST00000674878.1:c.18G>C
ENST00000674955.1:c.*491G>C	ENSP00000502463.1:n.*491G>C
ENST00000675118.1:c.1262G>C
ENST00000675389.1:n.49G>C
ENST00000675615.1:c.1774G>C	ENSP00000502413.1:p.Ala592Pro
ENST00000675648.1:n.1149G>C
ENST00000675916.1:c.18G>C
ENST00000676173.1:n.2519G>C
ENST00000676182.1:c.205G>C
ENST00000676228.1:c.*1097G>C	ENSP00000502375.1:n.*1097G>C
ENST00000255078.7:c.1774G>C	ENSP00000255078.3:p.Ala592Pro
ENST00000539064.5:n.1533G>C
ENST00000541229.5:n.469G>C
ENST00000543739.5:n.767G>C
ENST00000545475.1:n.370G>C
NM_002180.2:c.1774G>C , LRG_250t1:c.1774G>C	NP_002171.2:p.Ala592Pro
XM_005273974.2:c.763G>C	XP_005274031.1:p.Ala255Pro
XM_005273975.2:c.646G>C	XP_005274032.1:p.Ala216Pro
XM_011544994.1:c.541G>C	XP_011543296.1:p.Ala181Pro
XR_949903.1:n.1876G>C
XM_005273975.3:c.646G>C	XP_005274032.1:p.Ala216Pro
XM_017017669.2:c.763G>C	XP_016873158.1:p.Ala255Pro
XM_017017670.2:c.763G>C	XP_016873159.1:p.Ala255Pro
XR_949903.3:n.1872G>C
NM_002180.3:c.1774G>C MANE Select	NP_002171.2:p.Ala592Pro