Canonical Allele Identifier: CA381652776
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936565G>C , CM000673.2:g.68936565G>C GRCh38
NC_000011.9:g.68704033G>C , CM000673.1:g.68704033G>C GRCh37
NC_000011.8:g.68460609G>C NCBI36
NG_007976.1:g.37715G>C , LRG_250:g.37715G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2085G>C MANE Select ENSP00000255078.4:p.Lys695Asn
ENST00000674675.1:c.329G>C
ENST00000674878.1:c.329G>C
ENST00000674955.1:c.*802G>C ENSP00000502463.1:n.*802G>C
ENST00000675118.1:c.1573G>C
ENST00000675389.1:n.360G>C
ENST00000675615.1:c.2085G>C ENSP00000502413.1:p.Lys695Asn
ENST00000675648.1:n.1460G>C
ENST00000675916.1:c.329G>C
ENST00000676173.1:n.2830G>C
ENST00000676182.1:c.516G>C
ENST00000676228.1:c.*1408G>C ENSP00000502375.1:n.*1408G>C
ENST00000255078.7:c.2085G>C ENSP00000255078.3:p.Lys695Asn
ENST00000539064.5:n.1844G>C
ENST00000543739.5:n.1078G>C
NM_002180.2:c.2085G>C , LRG_250t1:c.2085G>C NP_002171.2:p.Lys695Asn
XM_005273974.2:c.1074G>C XP_005274031.1:p.Lys358Asn
XM_005273975.2:c.957G>C XP_005274032.1:p.Lys319Asn
XM_011544994.1:c.852G>C XP_011543296.1:p.Lys284Asn
XR_949903.1:n.2187G>C
XM_005273975.3:c.957G>C XP_005274032.1:p.Lys319Asn
XM_017017669.2:c.1074G>C XP_016873158.1:p.Lys358Asn
XM_017017670.2:c.1074G>C XP_016873159.1:p.Lys358Asn
XR_949903.3:n.2183G>C
NM_002180.3:c.2085G>C MANE Select NP_002171.2:p.Lys695Asn