Canonical Allele Identifier: CA381643292
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908285T>G , CM000673.2:g.68908285T>G GRCh38
NC_000011.9:g.68675753T>G , CM000673.1:g.68675753T>G GRCh37
NC_000011.8:g.68432329T>G NCBI36
NG_007976.1:g.9435T>G , LRG_250:g.9435T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.397T>G MANE Select ENSP00000255078.4:p.Ser133Ala
ENST00000539224.2:c.360T>G
ENST00000674583.1:c.360T>G
ENST00000674597.1:c.208T>G
ENST00000674955.1:c.397T>G ENSP00000502463.1:p.Ser133Ala
ENST00000675142.1:n.360T>G
ENST00000675469.1:c.273T>G
ENST00000675615.1:c.397T>G ENSP00000502413.1:p.Ser133Ala
ENST00000675674.1:n.360T>G
ENST00000675873.1:c.360T>G
ENST00000676173.1:n.441T>G
ENST00000676228.1:c.397T>G ENSP00000502375.1:p.Ser133Ala
ENST00000255078.7:c.397T>G ENSP00000255078.3:p.Ser133Ala
ENST00000539224.1:c.397T>G ENSP00000440465.1:p.Ser133Ala
ENST00000544541.1:c.*137T>G ENSP00000443343.1:n.*137T>G
NM_002180.2:c.397T>G , LRG_250t1:c.397T>G NP_002171.2:p.Ser133Ala
XM_005273974.2:c.-615T>G XP_005274031.1:n.-615T>G
XM_005273976.1:c.397T>G XP_005274033.1:p.Ser133Ala
XR_247198.1:n.499T>G
XR_949903.1:n.499T>G
XM_005273976.2:c.397T>G XP_005274033.1:p.Ser133Ala
XM_017017669.2:c.-517T>G XP_016873158.1:n.-517T>G
XM_017017671.2:c.397T>G XP_016873160.1:p.Ser133Ala
XR_949903.3:n.495T>G
NM_002180.3:c.397T>G MANE Select NP_002171.2:p.Ser133Ala