Canonical Allele Identifier: CA362230062
Gene: MSX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.174156308T>G (hg19) chr5:g.174729305T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729305T>G , CM000667.2:g.174729305T>G GRCh38
NC_000005.9:g.174156308T>G , CM000667.1:g.174156308T>G GRCh37
NC_000005.8:g.174088914T>G NCBI36
NG_008124.1:g.9734T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000239243.7:c.526T>G MANE Select ENSP00000239243.5:p.Ser176Ala
ENST00000239243.6:c.526T>G ENSP00000239243.5:p.Ser176Ala
ENST00000507785.2:c.*150T>G ENSP00000427425.1:n.*150T>G
NM_002449.4:c.526T>G NP_002440.2:p.Ser176Ala
NM_001363626.1:c.*150T>G NP_001350555.1:n.*150T>G
NM_002449.5:c.526T>G MANE Select NP_002440.2:p.Ser176Ala
NM_001363626.2:c.*150T>G NP_001350555.1:n.*150T>G
Search 100 bp 5'
Search 100 bp 3'