Canonical Allele Identifier: CA381644345
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68914888G>C , CM000673.2:g.68914888G>C GRCh38
NC_000011.9:g.68682356G>C , CM000673.1:g.68682356G>C GRCh37
NC_000011.8:g.68438932G>C NCBI36
NG_007976.1:g.16038G>C , LRG_250:g.16038G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.777G>C MANE Select ENSP00000255078.4:p.Lys259Asn
ENST00000539224.2:c.906G>C
ENST00000674955.1:c.777G>C ENSP00000502463.1:p.Lys259Asn
ENST00000675118.1:c.124G>C
ENST00000675119.1:c.66G>C ENSP00000501861.1:p.Lys22Asn
ENST00000675305.1:c.66G>C ENSP00000502365.1:p.Lys22Asn
ENST00000675464.1:c.66G>C ENSP00000502650.1:p.Lys22Asn
ENST00000675615.1:c.777G>C ENSP00000502413.1:p.Lys259Asn
ENST00000675683.1:c.164G>C
ENST00000676173.1:n.821G>C
ENST00000676228.1:c.*100G>C ENSP00000502375.1:n.*100G>C
ENST00000676239.1:n.91G>C
ENST00000255078.7:c.777G>C ENSP00000255078.3:p.Lys259Asn
ENST00000539224.1:c.*100G>C ENSP00000440465.1:n.*100G>C
NM_002180.2:c.777G>C , LRG_250t1:c.777G>C NP_002171.2:p.Lys259Asn
XM_005273974.2:c.-235G>C XP_005274031.1:n.-235G>C
XM_005273976.1:c.777G>C XP_005274033.1:p.Lys259Asn
XR_247198.1:n.879G>C
XR_949903.1:n.879G>C
XM_005273976.2:c.777G>C XP_005274033.1:p.Lys259Asn
XM_017017669.2:c.-235G>C XP_016873158.1:n.-235G>C
XM_017017670.2:c.-235G>C XP_016873159.1:n.-235G>C
XM_017017671.2:c.777G>C XP_016873160.1:p.Lys259Asn
XR_949903.3:n.875G>C
NM_002180.3:c.777G>C MANE Select NP_002171.2:p.Lys259Asn