Canonical Allele Identifier: CA647681724

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202518696-G-C
• COSMIC: COSN21402282 ; COSN24277037

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518696G>C , CM000664.2:g.202518696G>C	GRCh38
NC_000002.11:g.203383419G>C , CM000664.1:g.203383419G>C	GRCh37
NC_000002.10:g.203091664G>C	NCBI36
NG_009363.1:g.147370G>C , LRG_712:g.147370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.622-126G>C MANE Select	ENSP00000363708.4:n.622-126G>C
ENST00000638587.1:c.553-126G>C	ENSP00000491062.1:n.553-126G>C
ENST00000374574.2:c.622-126G>C	ENSP00000363702.2:n.622-126G>C
ENST00000374580.8:c.622-126G>C	ENSP00000363708.4:n.622-126G>C
NM_001204.6:c.622-126G>C , LRG_712t1:c.622-126G>C	NP_001195.2:n.622-126G>C
XM_011511687.1:c.622-126G>C	XP_011509989.1:n.622-126G>C
XM_011511688.1:c.622-126G>C	XP_011509990.1:n.622-126G>C
NM_001204.7:c.622-126G>C MANE Select	NP_001195.2:n.622-126G>C