Canonical Allele Identifier: CA2586965548

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520176_202520177insA , CM000664.2:g.202520176_202520177insA	GRCh38
NC_000002.11:g.203384899_203384900insA , CM000664.1:g.203384899_203384900insA	GRCh37
NC_000002.10:g.203093144_203093145insA	NCBI36
NG_009363.1:g.148850_148851insA , LRG_712:g.148850_148851insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.942_943insA MANE Select	ENSP00000363708.4:p.Leu315ThrfsTer12
ENST00000638587.1:c.873_874insA	ENSP00000491062.1:p.Leu292ThrfsTer12
ENST00000374574.2:c.942_943insA	ENSP00000363702.2:p.Leu315ThrfsTer12
ENST00000374580.8:c.942_943insA	ENSP00000363708.4:p.Leu315ThrfsTer12
NM_001204.6:c.942_943insA , LRG_712t1:c.942_943insA	NP_001195.2:p.Leu315ThrfsTer12
XM_011511687.1:c.942_943insA	XP_011509989.1:p.Leu315ThrfsTer12
XM_011511688.1:c.942_943insA	XP_011509990.1:p.Leu315ThrfsTer12
NM_001204.7:c.942_943insA MANE Select	NP_001195.2:p.Leu315ThrfsTer12