Canonical Allele Identifier: CA1041346466

Gene: BMPR2

Linked Data

• dbSNP Id: rs1688565262
• gnomAD v3: 2-202556065-TGTG-T
• gnomAD v4: 2-202556065-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556069_202556071del , CM000664.2:g.202556069_202556071del	GRCh38
NC_000002.11:g.203420792_203420794del , CM000664.1:g.203420792_203420794del	GRCh37
NC_000002.10:g.203129037_203129039del	NCBI36
NG_009363.1:g.184743_184745del , LRG_712:g.184743_184745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2404_2406del MANE Select	ENSP00000363708.4:p.Val802del
ENST00000638587.1:c.2335_2337del	ENSP00000491062.1:n.2335_2337del
ENST00000374574.2:c.1586+3181_1586+3183del	ENSP00000363702.2:n.1586+3181_1586+3183del
ENST00000374580.8:c.2404_2406del	ENSP00000363708.4:p.Val802del
NM_001204.6:c.2404_2406del , LRG_712t1:c.2404_2406del	NP_001195.2:p.Val802del
XM_011511687.1:c.2404_2406del	XP_011509989.1:p.Val802del
XM_011511688.1:c.1586+3181_1586+3183del	XP_011509990.1:n.1586+3181_1586+3183del
NM_001204.7:c.2404_2406del MANE Select	NP_001195.2:p.Val802del