Canonical Allele Identifier: CA350341350

Gene: BMPR2

Linked Data

• dbSNP Id: rs1374576605
• gnomAD v2: 2-203395554-C-A
• gnomAD v4: 2-202530831-C-A
• MyVariant Identifiers: chr2:g.203395554C>A (hg19) ; chr2:g.202530831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530831C>A , CM000664.2:g.202530831C>A	GRCh38
NC_000002.11:g.203395554C>A , CM000664.1:g.203395554C>A	GRCh37
NC_000002.10:g.203103799C>A	NCBI36
NG_009363.1:g.159505C>A , LRG_712:g.159505C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1005C>A MANE Select	ENSP00000363708.4:p.Asn335Lys
ENST00000638587.1:c.936C>A	ENSP00000491062.1:p.Asn312Lys
ENST00000374574.2:c.1005C>A	ENSP00000363702.2:p.Asn335Lys
ENST00000374580.8:c.1005C>A	ENSP00000363708.4:p.Asn335Lys
NM_001204.6:c.1005C>A , LRG_712t1:c.1005C>A	NP_001195.2:p.Asn335Lys
XM_011511687.1:c.1005C>A	XP_011509989.1:p.Asn335Lys
XM_011511688.1:c.1005C>A	XP_011509990.1:p.Asn335Lys
NM_001204.7:c.1005C>A MANE Select	NP_001195.2:p.Asn335Lys