Canonical Allele Identifier: CA381653961
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68937033G>C , CM000673.2:g.68937033G>C GRCh38
NC_000011.9:g.68704501G>C , CM000673.1:g.68704501G>C GRCh37
NC_000011.8:g.68461077G>C NCBI36
NG_007976.1:g.38183G>C , LRG_250:g.38183G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2553G>C MANE Select ENSP00000255078.4:p.Lys851Asn
ENST00000674675.1:c.698G>C
ENST00000674878.1:c.658G>C
ENST00000675118.1:c.2041G>C
ENST00000675389.1:n.828G>C
ENST00000675615.1:c.2553G>C ENSP00000502413.1:p.Lys851Asn
ENST00000675648.1:n.1928G>C
ENST00000675916.1:c.797G>C
ENST00000676173.1:n.3298G>C
ENST00000676182.1:c.984G>C
ENST00000676228.1:c.*1876G>C ENSP00000502375.1:n.*1876G>C
ENST00000255078.7:c.2553G>C ENSP00000255078.3:p.Lys851Asn
ENST00000539064.5:n.2312G>C
ENST00000543739.5:n.1546G>C
NM_002180.2:c.2553G>C , LRG_250t1:c.2553G>C NP_002171.2:p.Lys851Asn
XM_005273974.2:c.1542G>C XP_005274031.1:p.Lys514Asn
XM_005273975.2:c.1425G>C XP_005274032.1:p.Lys475Asn
XM_011544994.1:c.1320G>C XP_011543296.1:p.Lys440Asn
XR_949903.1:n.2655G>C
XM_005273975.3:c.1425G>C XP_005274032.1:p.Lys475Asn
XM_017017669.2:c.1542G>C XP_016873158.1:p.Lys514Asn
XM_017017670.2:c.1542G>C XP_016873159.1:p.Lys514Asn
XR_949903.3:n.2651G>C
NM_002180.3:c.2553G>C MANE Select NP_002171.2:p.Lys851Asn