Canonical Allele Identifier: CA381647367
Community Standard Title: NM_002180.3(IGHMBP2):c.1061-2A>G
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68929181A>G , CM000673.2:g.68929181A>G GRCh38
NC_000011.9:g.68696649A>G , CM000673.1:g.68696649A>G GRCh37
NC_000011.8:g.68453225A>G NCBI36
NG_007976.1:g.30331A>G , LRG_250:g.30331A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.1061-2A>G MANE Select NP_002171.2:n.1061-2A>G
ENST00000255078.8:c.1061-2A>G MANE Select ENSP00000255078.4:n.1061-2A>G
NM_002180.2:c.1061-2A>G , LRG_250t1:c.1061-2A>G NP_002171.2:n.1061-2A>G
ENST00000255078.7:c.1061-2A>G ENSP00000255078.3:n.1061-2A>G
ENST00000568742.1:n.171-2A>G
ENST00000674745.1:c.226-2A>G ENSP00000502738.1:n.226-2A>G
ENST00000674775.1:n.259A>G
ENST00000674955.1:c.1061-2A>G ENSP00000502463.1:n.1061-2A>G
ENST00000675118.1:c.549-2A>G
ENST00000675305.1:c.381-2A>G ENSP00000502365.1:n.381-2A>G
ENST00000675493.1:n.222-2A>G
ENST00000675615.1:c.1061-2A>G ENSP00000502413.1:n.1061-2A>G
ENST00000675648.1:n.436-2A>G
ENST00000675684.1:c.186A>G ENSP00000502192.1:p.Pro62=
ENST00000676173.1:n.1105-2A>G
ENST00000676228.1:c.*384-2A>G ENSP00000502375.1:n.*384-2A>G
XM_005273974.2:c.50-2A>G XP_005274031.1:n.50-2A>G
XM_005273976.1:c.1061-2A>G XP_005274033.1:n.1061-2A>G
XM_005273976.2:c.1061-2A>G XP_005274033.1:n.1061-2A>G
XM_017017669.2:c.50-2A>G XP_016873158.1:n.50-2A>G
XM_017017670.2:c.50-2A>G XP_016873159.1:n.50-2A>G
XM_017017671.2:c.1061-2A>G XP_016873160.1:n.1061-2A>G
XR_247198.1:n.1163-2A>G
XR_949903.1:n.1163-2A>G
XR_949903.3:n.1159-2A>G