Canonical Allele Identifier: CA381643873
Community Standard Title: NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68911530A>C , CM000673.2:g.68911530A>C GRCh38
NC_000011.9:g.68678998A>C , CM000673.1:g.68678998A>C GRCh37
NC_000011.8:g.68435574A>C NCBI36
NG_007976.1:g.12680A>C , LRG_250:g.12680A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.638A>C MANE Select NP_002171.2:p.His213Pro
ENST00000255078.8:c.638A>C MANE Select ENSP00000255078.4:p.His213Pro
NM_002180.2:c.638A>C , LRG_250t1:c.638A>C NP_002171.2:p.His213Pro
ENST00000255078.7:c.638A>C ENSP00000255078.3:p.His213Pro
ENST00000539224.1:c.540A>C ENSP00000440465.1:p.Pro180=
ENST00000539224.2:c.601A>C
ENST00000674583.1:c.601A>C
ENST00000674955.1:c.638A>C ENSP00000502463.1:p.His213Pro
ENST00000675142.1:n.601A>C
ENST00000675615.1:c.638A>C ENSP00000502413.1:p.His213Pro
ENST00000675674.1:n.601A>C
ENST00000675683.1:c.98+2899A>C
ENST00000675873.1:c.601A>C
ENST00000676173.1:n.682A>C
ENST00000676228.1:c.540A>C ENSP00000502375.1:p.Pro180=
XM_005273974.2:c.-374A>C XP_005274031.1:n.-374A>C
XM_005273976.1:c.638A>C XP_005274033.1:p.His213Pro
XM_005273976.2:c.638A>C XP_005274033.1:p.His213Pro
XM_017017669.2:c.-374A>C XP_016873158.1:n.-374A>C
XM_017017671.2:c.638A>C XP_016873160.1:p.His213Pro
XR_247198.1:n.740A>C
XR_949903.1:n.740A>C
XR_949903.3:n.736A>C