Canonical Allele Identifier: CA362228957
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174724682-A-T
MyVariant Identifiers: chr5:g.174151685A>T (hg19) chr5:g.174724682A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724682A>T , CM000667.2:g.174724682A>T GRCh38
NC_000005.9:g.174151685A>T , CM000667.1:g.174151685A>T GRCh37
NC_000005.8:g.174084291A>T NCBI36
NG_008124.1:g.5111A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.23A>T MANE Select ENSP00000239243.5:p.Asn8Ile
ENST00000239243.6:c.23A>T ENSP00000239243.5:p.Asn8Ile
ENST00000507785.2:c.23A>T ENSP00000427425.1:p.Asn8Ile
NM_002449.4:c.23A>T NP_002440.2:p.Asn8Ile
NM_001363626.1:c.23A>T NP_001350555.1:p.Asn8Ile
NM_002449.5:c.23A>T MANE Select NP_002440.2:p.Asn8Ile
NM_001363626.2:c.23A>T NP_001350555.1:p.Asn8Ile
Search 100 bp 5'
Search 100 bp 3'