Canonical Allele Identifier: CA2544553224
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556151_202556152insGT , CM000664.2:g.202556151_202556152insGT GRCh38
NC_000002.11:g.203420874_203420875insGT , CM000664.1:g.203420874_203420875insGT GRCh37
NC_000002.10:g.203129119_203129120insGT NCBI36
NG_009363.1:g.184825_184826insGT , LRG_712:g.184825_184826insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2486_2487insGT MANE Select ENSP00000363708.4:p.Val830Ter
ENST00000638587.1:c.2417_2418insGT ENSP00000491062.1:n.2417_2418insGT
ENST00000374574.2:c.1586+3263_1586+3264insGT ENSP00000363702.2:n.1586+3263_1586+3264insGT
ENST00000374580.8:c.2486_2487insGT ENSP00000363708.4:p.Val830Ter
NM_001204.6:c.2486_2487insGT , LRG_712t1:c.2486_2487insGT NP_001195.2:p.Val830Ter
XM_011511687.1:c.2486_2487insGT XP_011509989.1:p.Val830Ter
XM_011511688.1:c.1586+3263_1586+3264insGT XP_011509990.1:n.1586+3263_1586+3264insGT
NM_001204.7:c.2486_2487insGT MANE Select NP_001195.2:p.Val830Ter
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