Canonical Allele Identifier: CA381652050
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936414A>C , CM000673.2:g.68936414A>C GRCh38
NC_000011.9:g.68703882A>C , CM000673.1:g.68703882A>C GRCh37
NC_000011.8:g.68460458A>C NCBI36
NG_007976.1:g.37564A>C , LRG_250:g.37564A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1934A>C MANE Select ENSP00000255078.4:p.Asp645Ala
ENST00000674675.1:c.178A>C
ENST00000674878.1:c.178A>C
ENST00000674955.1:c.*651A>C ENSP00000502463.1:n.*651A>C
ENST00000675118.1:c.1422A>C
ENST00000675389.1:n.209A>C
ENST00000675615.1:c.1934A>C ENSP00000502413.1:p.Asp645Ala
ENST00000675648.1:n.1309A>C
ENST00000675916.1:c.178A>C
ENST00000676173.1:n.2679A>C
ENST00000676182.1:c.365A>C
ENST00000676228.1:c.*1257A>C ENSP00000502375.1:n.*1257A>C
ENST00000255078.7:c.1934A>C ENSP00000255078.3:p.Asp645Ala
ENST00000539064.5:n.1693A>C
ENST00000543739.5:n.927A>C
ENST00000545475.1:n.530A>C
NM_002180.2:c.1934A>C , LRG_250t1:c.1934A>C NP_002171.2:p.Asp645Ala
XM_005273974.2:c.923A>C XP_005274031.1:p.Asp308Ala
XM_005273975.2:c.806A>C XP_005274032.1:p.Asp269Ala
XM_011544994.1:c.701A>C XP_011543296.1:p.Asp234Ala
XR_949903.1:n.2036A>C
XM_005273975.3:c.806A>C XP_005274032.1:p.Asp269Ala
XM_017017669.2:c.923A>C XP_016873158.1:p.Asp308Ala
XM_017017670.2:c.923A>C XP_016873159.1:p.Asp308Ala
XR_949903.3:n.2032A>C
NM_002180.3:c.1934A>C MANE Select NP_002171.2:p.Asp645Ala