Canonical Allele Identifier: CA362229728

Gene: MSX2

Linked Data

• MyVariant Identifiers: chr5:g.174152060A>T (hg19) ; chr5:g.174725057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725057A>T , CM000667.2:g.174725057A>T	GRCh38
NC_000005.9:g.174152060A>T , CM000667.1:g.174152060A>T	GRCh37
NC_000005.8:g.174084666A>T	NCBI36
NG_008124.1:g.5486A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+19A>T MANE Select	ENSP00000239243.5:n.379+19A>T
ENST00000239243.6:c.379+19A>T	ENSP00000239243.5:n.379+19A>T
ENST00000507785.2:c.398A>T	ENSP00000427425.1:p.Gln133Leu
NM_002449.4:c.379+19A>T	NP_002440.2:n.379+19A>T
NM_001363626.1:c.398A>T	NP_001350555.1:p.Gln133Leu
NM_002449.5:c.379+19A>T MANE Select	NP_002440.2:n.379+19A>T
NM_001363626.2:c.398A>T	NP_001350555.1:p.Gln133Leu