Canonical Allele Identifier: CA2662706256

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202532441-A-AACCATTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532442_202532443insCCATTCTA , CM000664.2:g.202532442_202532443insCCATTCTA	GRCh38
NC_000002.11:g.203397165_203397166insCCATTCTA , CM000664.1:g.203397165_203397166insCCATTCTA	GRCh37
NC_000002.10:g.203105410_203105411insCCATTCTA	NCBI36
NG_009363.1:g.161116_161117insCCATTCTA , LRG_712:g.161116_161117insCCATTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1129-143_1129-142insCCATTCTA MANE Select	ENSP00000363708.4:n.1129-143_1129-142insCCATTCTA
ENST00000638587.1:c.1060-143_1060-142insCCATTCTA	ENSP00000491062.1:n.1060-143_1060-142insCCATTCTA
ENST00000374574.2:c.1129-143_1129-142insCCATTCTA	ENSP00000363702.2:n.1129-143_1129-142insCCATTCTA
ENST00000374580.8:c.1129-143_1129-142insCCATTCTA	ENSP00000363708.4:n.1129-143_1129-142insCCATTCTA
NM_001204.6:c.1129-143_1129-142insCCATTCTA , LRG_712t1:c.1129-143_1129-142insCCATTCTA	NP_001195.2:n.1129-143_1129-142insCCATTCTA
XM_011511687.1:c.1129-143_1129-142insCCATTCTA	XP_011509989.1:n.1129-143_1129-142insCCATTCTA
XM_011511688.1:c.1129-143_1129-142insCCATTCTA	XP_011509990.1:n.1129-143_1129-142insCCATTCTA
NM_001204.7:c.1129-143_1129-142insCCATTCTA MANE Select	NP_001195.2:n.1129-143_1129-142insCCATTCTA