Canonical Allele Identifier: CA381654017
Community Standard Title: NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68937047C>A , CM000673.2:g.68937047C>A GRCh38
NC_000011.9:g.68704515C>A , CM000673.1:g.68704515C>A GRCh37
NC_000011.8:g.68461091C>A NCBI36
NG_007976.1:g.38197C>A , LRG_250:g.38197C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.2567C>A MANE Select NP_002171.2:p.Ser856Ter
ENST00000255078.8:c.2567C>A MANE Select ENSP00000255078.4:p.Ser856Ter
NM_002180.2:c.2567C>A , LRG_250t1:c.2567C>A NP_002171.2:p.Ser856Ter
ENST00000255078.7:c.2567C>A ENSP00000255078.3:p.Ser856Ter
ENST00000539064.5:n.2326C>A
ENST00000543739.5:n.1560C>A
ENST00000674675.1:c.712C>A
ENST00000674878.1:c.672C>A
ENST00000675118.1:c.2055C>A
ENST00000675389.1:n.842C>A
ENST00000675615.1:c.2567C>A ENSP00000502413.1:p.Ser856Ter
ENST00000675648.1:n.1942C>A
ENST00000675916.1:c.811C>A
ENST00000676173.1:n.3312C>A
ENST00000676182.1:c.998C>A
ENST00000676228.1:c.*1890C>A ENSP00000502375.1:n.*1890C>A
XM_005273974.2:c.1556C>A XP_005274031.1:p.Ser519Ter
XM_005273975.2:c.1439C>A XP_005274032.1:p.Ser480Ter
XM_005273975.3:c.1439C>A XP_005274032.1:p.Ser480Ter
XM_011544994.1:c.1334C>A XP_011543296.1:p.Ser445Ter
XM_017017669.2:c.1556C>A XP_016873158.1:p.Ser519Ter
XM_017017670.2:c.1556C>A XP_016873159.1:p.Ser519Ter
XR_949903.1:n.2669C>A
XR_949903.3:n.2665C>A