Canonical Allele Identifier: CA447978612

Gene: MSX2

Linked Data

• dbSNP Id: rs775142998
• gnomAD v4: 5-174724968-G-T
• MyVariant Identifiers: chr5:g.174151971G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724968G>T , CM000667.2:g.174724968G>T	GRCh38
NC_000005.9:g.174151971G>T , CM000667.1:g.174151971G>T	GRCh37
NC_000005.8:g.174084577G>T	NCBI36
NG_008124.1:g.5397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.309G>T MANE Select	ENSP00000239243.5:p.Ser103=
ENST00000239243.6:c.309G>T	ENSP00000239243.5:p.Ser103=
ENST00000507785.2:c.309G>T	ENSP00000427425.1:p.Ser103=
NM_002449.4:c.309G>T	NP_002440.2:p.Ser103=
NM_001363626.1:c.309G>T	NP_001350555.1:p.Ser103=
NM_002449.5:c.309G>T MANE Select	NP_002440.2:p.Ser103=
NM_001363626.2:c.309G>T	NP_001350555.1:p.Ser103=