Canonical Allele Identifier: CA6153606

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933397A>C , CM000673.2:g.68933397A>C	GRCh38
NC_000011.9:g.68700865A>C , CM000673.1:g.68700865A>C	GRCh37
NC_000011.8:g.68457441A>C	NCBI36
NG_007976.1:g.34547A>C , LRG_250:g.34547A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1334A>C MANE Select	NP_002171.2:p.His445Pro
ENST00000255078.8:c.1334A>C MANE Select	ENSP00000255078.4:p.His445Pro
NM_002180.2:c.1334A>C , LRG_250t1:c.1334A>C	NP_002171.2:p.His445Pro
ENST00000255078.7:c.1334A>C	ENSP00000255078.3:p.His445Pro
ENST00000536803.1:n.443A>C
ENST00000536803.2:n.245A>C
ENST00000537458.5:n.451A>C
ENST00000539064.5:n.1093A>C
ENST00000543739.5:n.451A>C
ENST00000674955.1:c.*51A>C	ENSP00000502463.1:n.*51A>C
ENST00000675118.1:c.822A>C
ENST00000675205.1:n.99A>C
ENST00000675310.1:n.471A>C
ENST00000675615.1:c.1334A>C	ENSP00000502413.1:p.His445Pro
ENST00000675648.1:n.709A>C
ENST00000675997.1:n.113-1067A>C
ENST00000676149.1:n.408A>C
ENST00000676173.1:n.2079A>C
ENST00000676228.1:c.*657A>C	ENSP00000502375.1:n.*657A>C
XM_005273974.2:c.323A>C	XP_005274031.1:p.His108Pro
XM_005273975.2:c.206A>C	XP_005274032.1:p.His69Pro
XM_005273975.3:c.206A>C	XP_005274032.1:p.His69Pro
XM_011544994.1:c.101A>C	XP_011543296.1:p.His34Pro
XM_017017669.2:c.323A>C	XP_016873158.1:p.His108Pro
XM_017017670.2:c.323A>C	XP_016873159.1:p.His108Pro
XM_017017671.2:c.1334A>C	XP_016873160.1:p.His445Pro
XR_247198.1:n.2137A>C
XR_949903.1:n.1436A>C
XR_949903.3:n.1432A>C