Canonical Allele Identifier: CA381653199
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1280482095

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936760A>C , CM000673.2:g.68936760A>C GRCh38
NC_000011.9:g.68704228A>C , CM000673.1:g.68704228A>C GRCh37
NC_000011.8:g.68460804A>C NCBI36
NG_007976.1:g.37910A>C , LRG_250:g.37910A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2280A>C MANE Select ENSP00000255078.4:p.Gln760His
ENST00000674675.1:c.524A>C
ENST00000674878.1:c.524A>C
ENST00000674955.1:c.*997A>C ENSP00000502463.1:n.*997A>C
ENST00000675118.1:c.1768A>C
ENST00000675389.1:n.555A>C
ENST00000675615.1:c.2280A>C ENSP00000502413.1:p.Gln760His
ENST00000675648.1:n.1655A>C
ENST00000675916.1:c.524A>C
ENST00000676173.1:n.3025A>C
ENST00000676182.1:c.711A>C
ENST00000676228.1:c.*1603A>C ENSP00000502375.1:n.*1603A>C
ENST00000255078.7:c.2280A>C ENSP00000255078.3:p.Gln760His
ENST00000539064.5:n.2039A>C
ENST00000543739.5:n.1273A>C
NM_002180.2:c.2280A>C , LRG_250t1:c.2280A>C NP_002171.2:p.Gln760His
XM_005273974.2:c.1269A>C XP_005274031.1:p.Gln423His
XM_005273975.2:c.1152A>C XP_005274032.1:p.Gln384His
XM_011544994.1:c.1047A>C XP_011543296.1:p.Gln349His
XR_949903.1:n.2382A>C
XM_005273975.3:c.1152A>C XP_005274032.1:p.Gln384His
XM_017017669.2:c.1269A>C XP_016873158.1:p.Gln423His
XM_017017670.2:c.1269A>C XP_016873159.1:p.Gln423His
XR_949903.3:n.2378A>C
NM_002180.3:c.2280A>C MANE Select NP_002171.2:p.Gln760His