Canonical Allele Identifier: CA381643239
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908260C>G , CM000673.2:g.68908260C>G GRCh38
NC_000011.9:g.68675728C>G , CM000673.1:g.68675728C>G GRCh37
NC_000011.8:g.68432304C>G NCBI36
NG_007976.1:g.9410C>G , LRG_250:g.9410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.372C>G MANE Select ENSP00000255078.4:p.Phe124Leu
ENST00000539224.2:c.335C>G
ENST00000674583.1:c.335C>G
ENST00000674597.1:c.183C>G
ENST00000674955.1:c.372C>G ENSP00000502463.1:p.Phe124Leu
ENST00000675142.1:n.335C>G
ENST00000675469.1:c.248C>G
ENST00000675615.1:c.372C>G ENSP00000502413.1:p.Phe124Leu
ENST00000675674.1:n.335C>G
ENST00000675873.1:c.335C>G
ENST00000676173.1:n.416C>G
ENST00000676228.1:c.372C>G ENSP00000502375.1:p.Phe124Leu
ENST00000255078.7:c.372C>G ENSP00000255078.3:p.Phe124Leu
ENST00000539224.1:c.372C>G ENSP00000440465.1:p.Phe124Leu
ENST00000544541.1:c.*112C>G ENSP00000443343.1:n.*112C>G
NM_002180.2:c.372C>G , LRG_250t1:c.372C>G NP_002171.2:p.Phe124Leu
XM_005273974.2:c.-640C>G XP_005274031.1:n.-640C>G
XM_005273976.1:c.372C>G XP_005274033.1:p.Phe124Leu
XR_247198.1:n.474C>G
XR_949903.1:n.474C>G
XM_005273976.2:c.372C>G XP_005274033.1:p.Phe124Leu
XM_017017669.2:c.-542C>G XP_016873158.1:n.-542C>G
XM_017017671.2:c.372C>G XP_016873160.1:p.Phe124Leu
XR_949903.3:n.470C>G
NM_002180.3:c.372C>G MANE Select NP_002171.2:p.Phe124Leu