Canonical Allele Identifier: CA350347101
Gene: BMPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555682G>C , CM000664.2:g.202555682G>C GRCh38
NC_000002.11:g.203420405G>C , CM000664.1:g.203420405G>C GRCh37
NC_000002.10:g.203128650G>C NCBI36
NG_009363.1:g.184356G>C , LRG_712:g.184356G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2017G>C MANE Select ENSP00000363708.4:p.Val673Leu
ENST00000638587.1:c.1948G>C ENSP00000491062.1:n.1948G>C
ENST00000374574.2:c.1586+2794G>C ENSP00000363702.2:n.1586+2794G>C
ENST00000374580.8:c.2017G>C ENSP00000363708.4:p.Val673Leu
NM_001204.6:c.2017G>C , LRG_712t1:c.2017G>C NP_001195.2:p.Val673Leu
XM_011511687.1:c.2017G>C XP_011509989.1:p.Val673Leu
XM_011511688.1:c.1586+2794G>C XP_011509990.1:n.1586+2794G>C
NM_001204.7:c.2017G>C MANE Select NP_001195.2:p.Val673Leu