Canonical Allele Identifier: CA362229418
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174724909-C-A
MyVariant Identifiers: chr5:g.174151912C>A (hg19) chr5:g.174724909C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724909C>A , CM000667.2:g.174724909C>A GRCh38
NC_000005.9:g.174151912C>A , CM000667.1:g.174151912C>A GRCh37
NC_000005.8:g.174084518C>A NCBI36
NG_008124.1:g.5338C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000239243.7:c.250C>A MANE Select ENSP00000239243.5:p.His84Asn
ENST00000239243.6:c.250C>A ENSP00000239243.5:p.His84Asn
ENST00000507785.2:c.250C>A ENSP00000427425.1:p.His84Asn
NM_002449.4:c.250C>A NP_002440.2:p.His84Asn
NM_001363626.1:c.250C>A NP_001350555.1:p.His84Asn
NM_002449.5:c.250C>A MANE Select NP_002440.2:p.His84Asn
NM_001363626.2:c.250C>A NP_001350555.1:p.His84Asn
Search 100 bp 5'
Search 100 bp 3'