Canonical Allele Identifier: CA381650994
Community Standard Title: NM_002180.3(IGHMBP2):c.1633-2A>G
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68935297A>G , CM000673.2:g.68935297A>G GRCh38
NC_000011.9:g.68702765A>G , CM000673.1:g.68702765A>G GRCh37
NC_000011.8:g.68459341A>G NCBI36
NG_007976.1:g.36447A>G , LRG_250:g.36447A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.1633-2A>G MANE Select NP_002171.2:n.1633-2A>G
ENST00000255078.8:c.1633-2A>G MANE Select ENSP00000255078.4:n.1633-2A>G
NM_002180.2:c.1633-2A>G , LRG_250t1:c.1633-2A>G NP_002171.2:n.1633-2A>G
ENST00000255078.7:c.1633-2A>G ENSP00000255078.3:n.1633-2A>G
ENST00000539064.5:n.1392-2A>G
ENST00000541229.5:n.328-2A>G
ENST00000543739.5:n.749+739A>G
ENST00000545475.1:n.229-2A>G
ENST00000674955.1:c.*350-2A>G ENSP00000502463.1:n.*350-2A>G
ENST00000675118.1:c.1121-2A>G
ENST00000675615.1:c.1633-2A>G ENSP00000502413.1:n.1633-2A>G
ENST00000675648.1:n.1008-2A>G
ENST00000676173.1:n.2378-2A>G
ENST00000676182.1:c.96-34A>G
ENST00000676228.1:c.*956-2A>G ENSP00000502375.1:n.*956-2A>G
XM_005273974.2:c.622-2A>G XP_005274031.1:n.622-2A>G
XM_005273975.2:c.505-2A>G XP_005274032.1:n.505-2A>G
XM_005273975.3:c.505-2A>G XP_005274032.1:n.505-2A>G
XM_011544994.1:c.400-2A>G XP_011543296.1:n.400-2A>G
XM_017017669.2:c.622-2A>G XP_016873158.1:n.622-2A>G
XM_017017670.2:c.622-2A>G XP_016873159.1:n.622-2A>G
XM_017017671.2:c.1633-34A>G XP_016873160.1:n.1633-34A>G
XR_949903.1:n.1735-2A>G
XR_949903.3:n.1731-2A>G