Canonical Allele Identifier: CA475204352
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68703811A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936343A>C , CM000673.2:g.68936343A>C GRCh38
NC_000011.9:g.68703811A>C , CM000673.1:g.68703811A>C GRCh37
NC_000011.8:g.68460387A>C NCBI36
NG_007976.1:g.37493A>C , LRG_250:g.37493A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1863A>C MANE Select ENSP00000255078.4:p.Ala621=
ENST00000674675.1:c.107A>C
ENST00000674878.1:c.107A>C
ENST00000674955.1:c.*580A>C ENSP00000502463.1:n.*580A>C
ENST00000675118.1:c.1351A>C
ENST00000675389.1:n.138A>C
ENST00000675615.1:c.1863A>C ENSP00000502413.1:p.Ala621=
ENST00000675648.1:n.1238A>C
ENST00000675916.1:c.107A>C
ENST00000676173.1:n.2608A>C
ENST00000676182.1:c.294A>C
ENST00000676228.1:c.*1186A>C ENSP00000502375.1:n.*1186A>C
ENST00000255078.7:c.1863A>C ENSP00000255078.3:p.Ala621=
ENST00000539064.5:n.1622A>C
ENST00000543739.5:n.856A>C
ENST00000545475.1:n.459A>C
NM_002180.2:c.1863A>C , LRG_250t1:c.1863A>C NP_002171.2:p.Ala621=
XM_005273974.2:c.852A>C XP_005274031.1:p.Ala284=
XM_005273975.2:c.735A>C XP_005274032.1:p.Ala245=
XM_011544994.1:c.630A>C XP_011543296.1:p.Ala210=
XR_949903.1:n.1965A>C
XM_005273975.3:c.735A>C XP_005274032.1:p.Ala245=
XM_017017669.2:c.852A>C XP_016873158.1:p.Ala284=
XM_017017670.2:c.852A>C XP_016873159.1:p.Ala284=
XR_949903.3:n.1961A>C
NM_002180.3:c.1863A>C MANE Select NP_002171.2:p.Ala621=