Canonical Allele Identifier: CA1321510638

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467614_202467616delinsTTC , CM000664.2:g.202467614_202467616delinsTTC	GRCh38
NC_000002.11:g.203332337_203332339delinsTTC , CM000664.1:g.203332337_203332339delinsTTC	GRCh37
NC_000002.10:g.203040582_203040584delinsTTC	NCBI36
NG_009363.1:g.96288_96290delinsTTC , LRG_712:g.96288_96290delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.343_345delinsTTC MANE Select	ENSP00000363708.4:p.Phe115=
ENST00000638587.1:c.274_276delinsTTC	ENSP00000491062.1:p.Phe92=
ENST00000374574.2:c.343_345delinsTTC	ENSP00000363702.2:p.Phe115=
ENST00000374580.8:c.343_345delinsTTC	ENSP00000363708.4:p.Phe115=
ENST00000479069.1:n.250_252delinsTTC
NM_001204.6:c.343_345delinsTTC , LRG_712t1:c.343_345delinsTTC	NP_001195.2:p.Phe115=
XM_011511687.1:c.343_345delinsTTC	XP_011509989.1:p.Phe115=
XM_011511688.1:c.343_345delinsTTC	XP_011509990.1:p.Phe115=
NM_001204.7:c.343_345delinsTTC MANE Select	NP_001195.2:p.Phe115=