Canonical Allele Identifier: CA381652009
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 694859
dbSNP Id: rs1413846126

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936404T>C , CM000673.2:g.68936404T>C GRCh38
NC_000011.9:g.68703872T>C , CM000673.1:g.68703872T>C GRCh37
NC_000011.8:g.68460448T>C NCBI36
NG_007976.1:g.37554T>C , LRG_250:g.37554T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1924T>C MANE Select ENSP00000255078.4:p.Tyr642His
ENST00000674675.1:c.168T>C
ENST00000674878.1:c.168T>C
ENST00000674955.1:c.*641T>C ENSP00000502463.1:n.*641T>C
ENST00000675118.1:c.1412T>C
ENST00000675389.1:n.199T>C
ENST00000675615.1:c.1924T>C ENSP00000502413.1:p.Tyr642His
ENST00000675648.1:n.1299T>C
ENST00000675916.1:c.168T>C
ENST00000676173.1:n.2669T>C
ENST00000676182.1:c.355T>C
ENST00000676228.1:c.*1247T>C ENSP00000502375.1:n.*1247T>C
ENST00000255078.7:c.1924T>C ENSP00000255078.3:p.Tyr642His
ENST00000539064.5:n.1683T>C
ENST00000543739.5:n.917T>C
ENST00000545475.1:n.520T>C
NM_002180.2:c.1924T>C , LRG_250t1:c.1924T>C NP_002171.2:p.Tyr642His
XM_005273974.2:c.913T>C XP_005274031.1:p.Tyr305His
XM_005273975.2:c.796T>C XP_005274032.1:p.Tyr266His
XM_011544994.1:c.691T>C XP_011543296.1:p.Tyr231His
XR_949903.1:n.2026T>C
XM_005273975.3:c.796T>C XP_005274032.1:p.Tyr266His
XM_017017669.2:c.913T>C XP_016873158.1:p.Tyr305His
XM_017017670.2:c.913T>C XP_016873159.1:p.Tyr305His
XR_949903.3:n.2022T>C
NM_002180.3:c.1924T>C MANE Select NP_002171.2:p.Tyr642His