Canonical Allele Identifier: CA2651859082
Gene: BMP2 HGNC NCBI

Linked Data

gnomAD v4: 20-6770102-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770102C>T , CM000682.2:g.6770102C>T GRCh38
NC_000020.10:g.6750749C>T , CM000682.1:g.6750749C>T GRCh37
NC_000020.9:g.6698749C>T NCBI36
NG_023233.1:g.7005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.-7-18C>T MANE Select ENSP00000368104.3:n.-7-18C>T
ENST00000378827.4:c.-7-18C>T ENSP00000368104.3:n.-7-18C>T
NM_001200.2:c.-7-18C>T NP_001191.1:n.-7-18C>T
XM_011529323.1:c.-123+1227C>T XP_011527625.1:n.-123+1227C>T
NM_001200.3:c.-7-18C>T NP_001191.1:n.-7-18C>T
NM_001200.4:c.-7-18C>T MANE Select NP_001191.1:n.-7-18C>T