Canonical Allele Identifier: CA2061230

Gene: BMPR2

Linked Data

• dbSNP Id: rs1553508907
• ExAC: 2:203384788 T / TTC
• gnomAD v2: 2-203384788-T-TTC
• gnomAD v3: 2-202520065-T-TTC
• gnomAD v4: 2-202520065-T-TTC
• MyVariant Identifiers: chr2:g.203384789_203384792delinsTCCGCA (hg19) ; chr2:g.202520066_202520069delinsTCCGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520065_202520066insTC , CM000664.2:g.202520065_202520066insTC	GRCh38
NC_000002.11:g.203384788_203384789insTC , CM000664.1:g.203384788_203384789insTC	GRCh37
NC_000002.10:g.203093033_203093034insTC	NCBI36
NG_009363.1:g.148739_148740insTC , LRG_712:g.148739_148740insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-22_853-21insTC MANE Select	ENSP00000363708.4:n.853-22_853-21insTC
ENST00000638587.1:c.784-22_784-21insTC	ENSP00000491062.1:n.784-22_784-21insTC
ENST00000374574.2:c.853-22_853-21insTC	ENSP00000363702.2:n.853-22_853-21insTC
ENST00000374580.8:c.853-22_853-21insTC	ENSP00000363708.4:n.853-22_853-21insTC
NM_001204.6:c.853-22_853-21insTC , LRG_712t1:c.853-22_853-21insTC	NP_001195.2:n.853-22_853-21insTC
XM_011511687.1:c.853-22_853-21insTC	XP_011509989.1:n.853-22_853-21insTC
XM_011511688.1:c.853-22_853-21insTC	XP_011509990.1:n.853-22_853-21insTC
NM_001204.7:c.853-22_853-21insTC MANE Select	NP_001195.2:n.853-22_853-21insTC