Canonical Allele Identifier: CA362230192
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174729362-G-A
MyVariant Identifiers: chr5:g.174156365G>A (hg19) chr5:g.174729362G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729362G>A , CM000667.2:g.174729362G>A GRCh38
NC_000005.9:g.174156365G>A , CM000667.1:g.174156365G>A GRCh37
NC_000005.8:g.174088971G>A NCBI36
NG_008124.1:g.9791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.583G>A MANE Select ENSP00000239243.5:p.Ala195Thr
ENST00000239243.6:c.583G>A ENSP00000239243.5:p.Ala195Thr
ENST00000507785.2:c.*207G>A ENSP00000427425.1:n.*207G>A
NM_002449.4:c.583G>A NP_002440.2:p.Ala195Thr
NM_001363626.1:c.*207G>A NP_001350555.1:n.*207G>A
NM_002449.5:c.583G>A MANE Select NP_002440.2:p.Ala195Thr
NM_001363626.2:c.*207G>A NP_001350555.1:n.*207G>A
Search 100 bp 5'
Search 100 bp 3'