Canonical Allele Identifier: CA2614749114

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936729-TCAATTCCCACGACAGGCTGCGGGTCCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936733_68936760del , CM000673.2:g.68936733_68936760del	GRCh38
NC_000011.9:g.68704201_68704228del , CM000673.1:g.68704201_68704228del	GRCh37
NC_000011.8:g.68460777_68460804del	NCBI36
NG_007976.1:g.37883_37910del , LRG_250:g.37883_37910del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2253_2280del MANE Select	ENSP00000255078.4:p.Asn751LysfsTer2
ENST00000674675.1:c.497_524del
ENST00000674878.1:c.497_524del
ENST00000674955.1:c.*970_*997del	ENSP00000502463.1:n.*970_*997del
ENST00000675118.1:c.1741_1768del
ENST00000675389.1:n.528_555del
ENST00000675615.1:c.2253_2280del	ENSP00000502413.1:p.Asn751LysfsTer2
ENST00000675648.1:n.1628_1655del
ENST00000675916.1:c.497_524del
ENST00000676173.1:n.2998_3025del
ENST00000676182.1:c.684_711del
ENST00000676228.1:c.*1576_*1603del	ENSP00000502375.1:n.*1576_*1603del
ENST00000255078.7:c.2253_2280del	ENSP00000255078.3:p.Asn751LysfsTer2
ENST00000539064.5:n.2012_2039del
ENST00000543739.5:n.1246_1273del
NM_002180.2:c.2253_2280del , LRG_250t1:c.2253_2280del	NP_002171.2:p.Asn751LysfsTer2
XM_005273974.2:c.1242_1269del	XP_005274031.1:p.Asn414LysfsTer2
XM_005273975.2:c.1125_1152del	XP_005274032.1:p.Asn375LysfsTer2
XM_011544994.1:c.1020_1047del	XP_011543296.1:p.Asn340LysfsTer2
XR_949903.1:n.2355_2382del
XM_005273975.3:c.1125_1152del	XP_005274032.1:p.Asn375LysfsTer2
XM_017017669.2:c.1242_1269del	XP_016873158.1:p.Asn414LysfsTer2
XM_017017670.2:c.1242_1269del	XP_016873159.1:p.Asn414LysfsTer2
XR_949903.3:n.2351_2378del
NM_002180.3:c.2253_2280del MANE Select	NP_002171.2:p.Asn751LysfsTer2