Canonical Allele Identifier: CA381649561
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933794G>A , CM000673.2:g.68933794G>A GRCh38
NC_000011.9:g.68701262G>A , CM000673.1:g.68701262G>A GRCh37
NC_000011.8:g.68457838G>A NCBI36
NG_007976.1:g.34944G>A , LRG_250:g.34944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1419-1G>A MANE Select ENSP00000255078.4:n.1419-1G>A
ENST00000674955.1:c.*136-1G>A ENSP00000502463.1:n.*136-1G>A
ENST00000675118.1:c.907-1G>A
ENST00000675205.1:n.183+313G>A
ENST00000675615.1:c.1419-1G>A ENSP00000502413.1:n.1419-1G>A
ENST00000675648.1:n.794-1G>A
ENST00000675997.1:n.113-670G>A
ENST00000676173.1:n.2164-1G>A
ENST00000676228.1:c.*742-1G>A ENSP00000502375.1:n.*742-1G>A
ENST00000255078.7:c.1419-1G>A ENSP00000255078.3:n.1419-1G>A
ENST00000537458.5:n.536-1G>A
ENST00000539064.5:n.1178-1G>A
ENST00000541229.5:n.113G>A
ENST00000543739.5:n.536-1G>A
NM_002180.2:c.1419-1G>A , LRG_250t1:c.1419-1G>A NP_002171.2:n.1419-1G>A
XM_005273974.2:c.408-1G>A XP_005274031.1:n.408-1G>A
XM_005273975.2:c.291-1G>A XP_005274032.1:n.291-1G>A
XM_011544994.1:c.186-1G>A XP_011543296.1:n.186-1G>A
XR_949903.1:n.1521-1G>A
XM_005273975.3:c.291-1G>A XP_005274032.1:n.291-1G>A
XM_017017669.2:c.408-1G>A XP_016873158.1:n.408-1G>A
XM_017017670.2:c.408-1G>A XP_016873159.1:n.408-1G>A
XM_017017671.2:c.1419-1G>A XP_016873160.1:n.1419-1G>A
XR_949903.3:n.1517-1G>A
NM_002180.3:c.1419-1G>A MANE Select NP_002171.2:n.1419-1G>A