Canonical Allele Identifier: CA362230127

Gene: MSX2

Linked Data

• MyVariant Identifiers: chr5:g.174156338G>T (hg19) ; chr5:g.174729335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174729335G>T , CM000667.2:g.174729335G>T	GRCh38
NC_000005.9:g.174156338G>T , CM000667.1:g.174156338G>T	GRCh37
NC_000005.8:g.174088944G>T	NCBI36
NG_008124.1:g.9764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.556G>T MANE Select	ENSP00000239243.5:p.Val186Phe
ENST00000239243.6:c.556G>T	ENSP00000239243.5:p.Val186Phe
ENST00000507785.2:c.*180G>T	ENSP00000427425.1:n.*180G>T
NM_002449.4:c.556G>T	NP_002440.2:p.Val186Phe
NM_001363626.1:c.*180G>T	NP_001350555.1:n.*180G>T
NM_002449.5:c.556G>T MANE Select	NP_002440.2:p.Val186Phe
NM_001363626.2:c.*180G>T	NP_001350555.1:n.*180G>T