Canonical Allele Identifier: CA658797696
Community Standard Title: NM_002180.3(IGHMBP2):c.548-19G>T
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68911421G>T , CM000673.2:g.68911421G>T GRCh38
NC_000011.9:g.68678889G>T , CM000673.1:g.68678889G>T GRCh37
NC_000011.8:g.68435465G>T NCBI36
NG_007976.1:g.12571G>T , LRG_250:g.12571G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.548-19G>T MANE Select NP_002171.2:n.548-19G>T
ENST00000255078.8:c.548-19G>T MANE Select ENSP00000255078.4:n.548-19G>T
NM_002180.2:c.548-19G>T , LRG_250t1:c.548-19G>T NP_002171.2:n.548-19G>T
ENST00000255078.7:c.548-19G>T ENSP00000255078.3:n.548-19G>T
ENST00000539224.1:c.450-19G>T ENSP00000440465.1:n.450-19G>T
ENST00000539224.2:c.511-19G>T
ENST00000544541.1:c.*288-19G>T ENSP00000443343.1:n.*288-19G>T
ENST00000674583.1:c.511-19G>T
ENST00000674955.1:c.548-19G>T ENSP00000502463.1:n.548-19G>T
ENST00000675142.1:n.511-19G>T
ENST00000675615.1:c.548-19G>T ENSP00000502413.1:n.548-19G>T
ENST00000675674.1:n.511-19G>T
ENST00000675683.1:c.98+2790G>T
ENST00000675873.1:c.511-19G>T
ENST00000676173.1:n.592-19G>T
ENST00000676228.1:c.450-19G>T ENSP00000502375.1:n.450-19G>T
XM_005273974.2:c.-464-19G>T XP_005274031.1:n.-464-19G>T
XM_005273976.1:c.548-19G>T XP_005274033.1:n.548-19G>T
XM_005273976.2:c.548-19G>T XP_005274033.1:n.548-19G>T
XM_017017669.2:c.-464-19G>T XP_016873158.1:n.-464-19G>T
XM_017017671.2:c.548-19G>T XP_016873160.1:n.548-19G>T
XR_247198.1:n.650-19G>T
XR_949903.1:n.650-19G>T
XR_949903.3:n.646-19G>T