Canonical Allele Identifier: CA381643448
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908552G>C , CM000673.2:g.68908552G>C GRCh38
NC_000011.9:g.68676020G>C , CM000673.1:g.68676020G>C GRCh37
NC_000011.8:g.68432596G>C NCBI36
NG_007976.1:g.9702G>C , LRG_250:g.9702G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.468G>C MANE Select ENSP00000255078.4:p.Lys156Asn
ENST00000539224.2:c.431G>C
ENST00000674583.1:c.431G>C
ENST00000674597.1:c.279G>C
ENST00000674955.1:c.468G>C ENSP00000502463.1:p.Lys156Asn
ENST00000675142.1:n.431G>C
ENST00000675469.1:c.344G>C
ENST00000675615.1:c.468G>C ENSP00000502413.1:p.Lys156Asn
ENST00000675674.1:n.431G>C
ENST00000675683.1:c.19G>C
ENST00000675873.1:c.431G>C
ENST00000676173.1:n.512G>C
ENST00000676228.1:c.449+215G>C ENSP00000502375.1:n.449+215G>C
ENST00000255078.7:c.468G>C ENSP00000255078.3:p.Lys156Asn
ENST00000539224.1:c.449+215G>C ENSP00000440465.1:n.449+215G>C
ENST00000544541.1:c.*208G>C ENSP00000443343.1:n.*208G>C
NM_002180.2:c.468G>C , LRG_250t1:c.468G>C NP_002171.2:p.Lys156Asn
XM_005273974.2:c.-544G>C XP_005274031.1:n.-544G>C
XM_005273976.1:c.468G>C XP_005274033.1:p.Lys156Asn
XR_247198.1:n.570G>C
XR_949903.1:n.570G>C
XM_005273976.2:c.468G>C XP_005274033.1:p.Lys156Asn
XM_017017669.2:c.-465+215G>C XP_016873158.1:n.-465+215G>C
XM_017017671.2:c.468G>C XP_016873160.1:p.Lys156Asn
XR_949903.3:n.566G>C
NM_002180.3:c.468G>C MANE Select NP_002171.2:p.Lys156Asn