Canonical Allele Identifier: CA381653060
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936699A>G , CM000673.2:g.68936699A>G GRCh38
NC_000011.9:g.68704167A>G , CM000673.1:g.68704167A>G GRCh37
NC_000011.8:g.68460743A>G NCBI36
NG_007976.1:g.37849A>G , LRG_250:g.37849A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2219A>G MANE Select ENSP00000255078.4:p.Lys740Arg
ENST00000674675.1:c.463A>G
ENST00000674878.1:c.463A>G
ENST00000674955.1:c.*936A>G ENSP00000502463.1:n.*936A>G
ENST00000675118.1:c.1707A>G
ENST00000675389.1:n.494A>G
ENST00000675615.1:c.2219A>G ENSP00000502413.1:p.Lys740Arg
ENST00000675648.1:n.1594A>G
ENST00000675916.1:c.463A>G
ENST00000676173.1:n.2964A>G
ENST00000676182.1:c.650A>G
ENST00000676228.1:c.*1542A>G ENSP00000502375.1:n.*1542A>G
ENST00000255078.7:c.2219A>G ENSP00000255078.3:p.Lys740Arg
ENST00000539064.5:n.1978A>G
ENST00000543739.5:n.1212A>G
NM_002180.2:c.2219A>G , LRG_250t1:c.2219A>G NP_002171.2:p.Lys740Arg
XM_005273974.2:c.1208A>G XP_005274031.1:p.Lys403Arg
XM_005273975.2:c.1091A>G XP_005274032.1:p.Lys364Arg
XM_011544994.1:c.986A>G XP_011543296.1:p.Lys329Arg
XR_949903.1:n.2321A>G
XM_005273975.3:c.1091A>G XP_005274032.1:p.Lys364Arg
XM_017017669.2:c.1208A>G XP_016873158.1:p.Lys403Arg
XM_017017670.2:c.1208A>G XP_016873159.1:p.Lys403Arg
XR_949903.3:n.2317A>G
NM_002180.3:c.2219A>G MANE Select NP_002171.2:p.Lys740Arg