Canonical Allele Identifier: CA381643378
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908326G>C , CM000673.2:g.68908326G>C GRCh38
NC_000011.9:g.68675794G>C , CM000673.1:g.68675794G>C GRCh37
NC_000011.8:g.68432370G>C NCBI36
NG_007976.1:g.9476G>C , LRG_250:g.9476G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.438G>C MANE Select ENSP00000255078.4:p.Arg146Ser
ENST00000539224.2:c.401G>C
ENST00000674583.1:c.401G>C
ENST00000674597.1:c.249G>C
ENST00000674955.1:c.438G>C ENSP00000502463.1:p.Arg146Ser
ENST00000675142.1:n.401G>C
ENST00000675469.1:c.314G>C
ENST00000675615.1:c.438G>C ENSP00000502413.1:p.Arg146Ser
ENST00000675674.1:n.401G>C
ENST00000675873.1:c.401G>C
ENST00000676173.1:n.482G>C
ENST00000676228.1:c.438G>C ENSP00000502375.1:p.Arg146Ser
ENST00000255078.7:c.438G>C ENSP00000255078.3:p.Arg146Ser
ENST00000539224.1:c.438G>C ENSP00000440465.1:p.Arg146Ser
ENST00000544541.1:c.*178G>C ENSP00000443343.1:n.*178G>C
NM_002180.2:c.438G>C , LRG_250t1:c.438G>C NP_002171.2:p.Arg146Ser
XM_005273974.2:c.-574G>C XP_005274031.1:n.-574G>C
XM_005273976.1:c.438G>C XP_005274033.1:p.Arg146Ser
XR_247198.1:n.540G>C
XR_949903.1:n.540G>C
XM_005273976.2:c.438G>C XP_005274033.1:p.Arg146Ser
XM_017017669.2:c.-476G>C XP_016873158.1:n.-476G>C
XM_017017671.2:c.438G>C XP_016873160.1:p.Arg146Ser
XR_949903.3:n.536G>C
NM_002180.3:c.438G>C MANE Select NP_002171.2:p.Arg146Ser