Canonical Allele Identifier: CA6154042
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305863
dbSNP Id: rs759627672

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68939605C>T , CM000673.2:g.68939605C>T GRCh38
NC_000011.9:g.68707073C>T , CM000673.1:g.68707073C>T GRCh37
NC_000011.8:g.68463649C>T NCBI36
NG_007976.1:g.40755C>T , LRG_250:g.40755C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2856C>T MANE Select ENSP00000255078.4:p.Ala952=
ENST00000675118.1:c.2344C>T
ENST00000675615.1:c.*55C>T ENSP00000502413.1:n.*55C>T
ENST00000675648.1:n.2418C>T
ENST00000675916.1:c.1287C>T
ENST00000676173.1:n.3601C>T
ENST00000255078.7:c.2856C>T ENSP00000255078.3:p.Ala952=
ENST00000543739.5:n.1849C>T
ENST00000544521.1:n.687C>T
NM_002180.2:c.2856C>T , LRG_250t1:c.2856C>T NP_002171.2:p.Ala952=
XM_005273974.2:c.1845C>T XP_005274031.1:p.Ala615=
XM_005273975.2:c.1728C>T XP_005274032.1:p.Ala576=
XM_011544994.1:c.1623C>T XP_011543296.1:p.Ala541=
XR_949903.1:n.3145C>T
XM_005273975.3:c.1728C>T XP_005274032.1:p.Ala576=
XM_017017669.2:c.1845C>T XP_016873158.1:p.Ala615=
XM_017017670.2:c.1845C>T XP_016873159.1:p.Ala615=
XR_949903.3:n.3141C>T
NM_002180.3:c.2856C>T MANE Select NP_002171.2:p.Ala952=