Canonical Allele Identifier: CA362161325
Gene: NKX2-5 HGNC NCBI
ClinVar RCV:
RCV001210751
ClinVar Variation:
941044
dbSNP:
770192204
gnomAD v3:
5:173232838 G / A
gnomAD v4:
chr5-173232838-G-A
MyVariant.info:
GRCh38 chr5:g.173232838G>A
GRCh37 chr5:g.172659841G>A
Revel Score:
ENST00000329198 (MANE Select) 0.239
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232838G>A , CM000667.2:g.173232838G>A GRCh38
NC_000005.9:g.172659841G>A , CM000667.1:g.172659841G>A GRCh37
NC_000005.8:g.172592447G>A NCBI36
NG_013340.1:g.7475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.706C>T MANE Select ENSP00000327758.4:p.Pro236Ser
ENST00000329198.4:c.706C>T ENSP00000327758.4:p.Pro236Ser
NM_001166175.1:c.*659C>T NP_001159647.1:n.*659C>T
NM_001166176.1:c.*505C>T NP_001159648.1:n.*505C>T
NM_004387.3:c.706C>T NP_004378.1:p.Pro236Ser
NM_004387.4:c.706C>T MANE Select NP_004378.1:p.Pro236Ser
NM_001166175.2:c.*659C>T NP_001159647.1:n.*659C>T
NM_001166176.2:c.*505C>T NP_001159648.1:n.*505C>T
Search 100 bp 5'
Search 100 bp 3'