Canonical Allele Identifier: CA381654833
Community Standard Title: NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68939576A>T , CM000673.2:g.68939576A>T GRCh38
NC_000011.9:g.68707044A>T , CM000673.1:g.68707044A>T GRCh37
NC_000011.8:g.68463620A>T NCBI36
NG_007976.1:g.40726A>T , LRG_250:g.40726A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.2827A>T MANE Select NP_002171.2:p.Arg943Ter
ENST00000255078.8:c.2827A>T MANE Select ENSP00000255078.4:p.Arg943Ter
NM_002180.2:c.2827A>T , LRG_250t1:c.2827A>T NP_002171.2:p.Arg943Ter
ENST00000255078.7:c.2827A>T ENSP00000255078.3:p.Arg943Ter
ENST00000543739.5:n.1820A>T
ENST00000544521.1:n.658A>T
ENST00000675118.1:c.2315A>T
ENST00000675615.1:c.*26A>T ENSP00000502413.1:n.*26A>T
ENST00000675648.1:n.2389A>T
ENST00000675916.1:c.1258A>T
ENST00000676173.1:n.3572A>T
XM_005273974.2:c.1816A>T XP_005274031.1:p.Arg606Ter
XM_005273975.2:c.1699A>T XP_005274032.1:p.Arg567Ter
XM_005273975.3:c.1699A>T XP_005274032.1:p.Arg567Ter
XM_011544994.1:c.1594A>T XP_011543296.1:p.Arg532Ter
XM_017017669.2:c.1816A>T XP_016873158.1:p.Arg606Ter
XM_017017670.2:c.1816A>T XP_016873159.1:p.Arg606Ter
XR_949903.1:n.3116A>T
XR_949903.3:n.3112A>T