Canonical Allele Identifier: CA6154080
Gene: IGHMBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68939737C>T
GRCh37 chr11:g.68707205C>T
gnomAD v2:
11:68707205 C / T
gnomAD v3:
11:68939737 C / T
gnomAD v4:
chr11-68939737-C-T
Joint Max Group AF 0.0011426 (NFE)
Genomes Max Group AF 0.0007818 (NFE)
Exomes Max Group AF 0.00115504 (NFE)
ClinVar Allele:
328985
ClinVar RCV:
RCV000356883
RCV001172570
RCV001705455
ClinVar Variation:
305866
dbSNP:
117995705
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68939737C>T , CM000673.2:g.68939737C>T GRCh38
NC_000011.9:g.68707205C>T , CM000673.1:g.68707205C>T GRCh37
NC_000011.8:g.68463781C>T NCBI36
NG_007976.1:g.40887C>T , LRG_250:g.40887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.*6C>T MANE Select ENSP00000255078.4:n.*6C>T
ENST00000675118.1:c.2476C>T
ENST00000675615.1:c.*187C>T ENSP00000502413.1:n.*187C>T
ENST00000675648.1:n.2550C>T
ENST00000675916.1:c.1419C>T
ENST00000676173.1:n.3733C>T
ENST00000255078.7:c.*6C>T ENSP00000255078.3:n.*6C>T
ENST00000543739.5:n.1981C>T
ENST00000544521.1:n.819C>T
NM_002180.2:c.*6C>T , LRG_250t1:c.*6C>T NP_002171.2:n.*6C>T
XM_005273974.2:c.*6C>T XP_005274031.1:n.*6C>T
XM_005273975.2:c.*6C>T XP_005274032.1:n.*6C>T
XM_011544994.1:c.*6C>T XP_011543296.1:n.*6C>T
XR_949903.1:n.3277C>T
XM_005273975.3:c.*6C>T XP_005274032.1:n.*6C>T
XM_017017669.2:c.*6C>T XP_016873158.1:n.*6C>T
XM_017017670.2:c.*6C>T XP_016873159.1:n.*6C>T
XR_949903.3:n.3273C>T
NM_002180.3:c.*6C>T MANE Select NP_002171.2:n.*6C>T
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