Canonical Allele Identifier: CA381649449
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933473C>A , CM000673.2:g.68933473C>A GRCh38
NC_000011.9:g.68700941C>A , CM000673.1:g.68700941C>A GRCh37
NC_000011.8:g.68457517C>A NCBI36
NG_007976.1:g.34623C>A , LRG_250:g.34623C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1410C>A MANE Select ENSP00000255078.4:p.His470Gln
ENST00000536803.2:n.321C>A
ENST00000674955.1:c.*127C>A ENSP00000502463.1:n.*127C>A
ENST00000675118.1:c.898C>A
ENST00000675205.1:n.175C>A
ENST00000675310.1:n.547C>A
ENST00000675615.1:c.1410C>A ENSP00000502413.1:p.His470Gln
ENST00000675648.1:n.785C>A
ENST00000675997.1:n.113-991C>A
ENST00000676149.1:n.484C>A
ENST00000676173.1:n.2155C>A
ENST00000676228.1:c.*733C>A ENSP00000502375.1:n.*733C>A
ENST00000255078.7:c.1410C>A ENSP00000255078.3:p.His470Gln
ENST00000537458.5:n.527C>A
ENST00000539064.5:n.1169C>A
ENST00000543739.5:n.527C>A
NM_002180.2:c.1410C>A , LRG_250t1:c.1410C>A NP_002171.2:p.His470Gln
XM_005273974.2:c.399C>A XP_005274031.1:p.His133Gln
XM_005273975.2:c.282C>A XP_005274032.1:p.His94Gln
XM_011544994.1:c.177C>A XP_011543296.1:p.His59Gln
XR_949903.1:n.1512C>A
XM_005273975.3:c.282C>A XP_005274032.1:p.His94Gln
XM_017017669.2:c.399C>A XP_016873158.1:p.His133Gln
XM_017017670.2:c.399C>A XP_016873159.1:p.His133Gln
XM_017017671.2:c.1410C>A XP_016873160.1:p.His470Gln
XR_949903.3:n.1508C>A
NM_002180.3:c.1410C>A MANE Select NP_002171.2:p.His470Gln