Canonical Allele Identifier: CA350399662
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307208

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467591C>T , CM000664.2:g.202467591C>T GRCh38
NC_000002.11:g.203332314C>T , CM000664.1:g.203332314C>T GRCh37
NC_000002.10:g.203040559C>T NCBI36
NG_009363.1:g.96265C>T , LRG_712:g.96265C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.320C>T MANE Select ENSP00000363708.4:p.Ser107Leu
ENST00000638587.1:c.251C>T ENSP00000491062.1:p.Ser84Leu
ENST00000374574.2:c.320C>T ENSP00000363702.2:p.Ser107Leu
ENST00000374580.8:c.320C>T ENSP00000363708.4:p.Ser107Leu
ENST00000479069.1:n.227C>T
NM_001204.6:c.320C>T , LRG_712t1:c.320C>T NP_001195.2:p.Ser107Leu
XM_011511687.1:c.320C>T XP_011509989.1:p.Ser107Leu
XM_011511688.1:c.320C>T XP_011509990.1:p.Ser107Leu
NM_001204.7:c.320C>T MANE Select NP_001195.2:p.Ser107Leu