Canonical Allele Identifier: CA381648529
Community Standard Title: NM_002180.3(IGHMBP2):c.1236-1G>T
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933298G>T , CM000673.2:g.68933298G>T GRCh38
NC_000011.9:g.68700766G>T , CM000673.1:g.68700766G>T GRCh37
NC_000011.8:g.68457342G>T NCBI36
NG_007976.1:g.34448G>T , LRG_250:g.34448G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.1236-1G>T MANE Select NP_002171.2:n.1236-1G>T
ENST00000255078.8:c.1236-1G>T MANE Select ENSP00000255078.4:n.1236-1G>T
NM_002180.2:c.1236-1G>T , LRG_250t1:c.1236-1G>T NP_002171.2:n.1236-1G>T
ENST00000255078.7:c.1236-1G>T ENSP00000255078.3:n.1236-1G>T
ENST00000536803.1:n.345-1G>T
ENST00000536803.2:n.146G>T
ENST00000537458.5:n.352G>T
ENST00000539064.5:n.994G>T
ENST00000543739.5:n.352G>T
ENST00000568742.1:n.458-1G>T
ENST00000674955.1:c.1348-1G>T ENSP00000502463.1:n.1348-1G>T
ENST00000675118.1:c.724-1G>T
ENST00000675310.1:n.373-1G>T
ENST00000675615.1:c.1236-1G>T ENSP00000502413.1:n.1236-1G>T
ENST00000675648.1:n.611-1G>T
ENST00000675997.1:n.113-1166G>T
ENST00000676149.1:n.310-1G>T
ENST00000676173.1:n.1981-1G>T
ENST00000676228.1:c.*559-1G>T ENSP00000502375.1:n.*559-1G>T
XM_005273974.2:c.225-1G>T XP_005274031.1:n.225-1G>T
XM_005273975.2:c.108-1G>T XP_005274032.1:n.108-1G>T
XM_005273975.3:c.108-1G>T XP_005274032.1:n.108-1G>T
XM_011544994.1:c.3-1G>T XP_011543296.1:n.3-1G>T
XM_017017669.2:c.225-1G>T XP_016873158.1:n.225-1G>T
XM_017017670.2:c.225-1G>T XP_016873159.1:n.225-1G>T
XM_017017671.2:c.1236-1G>T XP_016873160.1:n.1236-1G>T
XR_247198.1:n.2039-1G>T
XR_949903.1:n.1338-1G>T
XR_949903.3:n.1334-1G>T