Canonical Allele Identifier: CA2614749474
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933735G>T , CM000673.2:g.68933735G>T GRCh38
NC_000011.9:g.68701203G>T , CM000673.1:g.68701203G>T GRCh37
NC_000011.8:g.68457779G>T NCBI36
NG_007976.1:g.34885G>T , LRG_250:g.34885G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1419-60G>T MANE Select ENSP00000255078.4:n.1419-60G>T
ENST00000674955.1:c.*136-60G>T ENSP00000502463.1:n.*136-60G>T
ENST00000675118.1:c.907-60G>T
ENST00000675205.1:n.183+254G>T
ENST00000675615.1:c.1419-60G>T ENSP00000502413.1:n.1419-60G>T
ENST00000675648.1:n.794-60G>T
ENST00000675997.1:n.113-729G>T
ENST00000676173.1:n.2164-60G>T
ENST00000676228.1:c.*742-60G>T ENSP00000502375.1:n.*742-60G>T
ENST00000255078.7:c.1419-60G>T ENSP00000255078.3:n.1419-60G>T
ENST00000537458.5:n.536-60G>T
ENST00000539064.5:n.1178-60G>T
ENST00000541229.5:n.54G>T
ENST00000543739.5:n.536-60G>T
NM_002180.2:c.1419-60G>T , LRG_250t1:c.1419-60G>T NP_002171.2:n.1419-60G>T
XM_005273974.2:c.408-60G>T XP_005274031.1:n.408-60G>T
XM_005273975.2:c.291-60G>T XP_005274032.1:n.291-60G>T
XM_011544994.1:c.186-60G>T XP_011543296.1:n.186-60G>T
XR_949903.1:n.1521-60G>T
XM_005273975.3:c.291-60G>T XP_005274032.1:n.291-60G>T
XM_017017669.2:c.408-60G>T XP_016873158.1:n.408-60G>T
XM_017017670.2:c.408-60G>T XP_016873159.1:n.408-60G>T
XM_017017671.2:c.1419-60G>T XP_016873160.1:n.1419-60G>T
XR_949903.3:n.1517-60G>T
NM_002180.3:c.1419-60G>T MANE Select NP_002171.2:n.1419-60G>T