Canonical Allele Identifier: CA3565152

Gene: MSX2

Linked Data

• ClinVar Variation Id: 1528926
• ClinVar RCV Id: RCV002512171 ; RCV002079845
• dbSNP Id: rs569601106
• ExAC: 5:174152048 G / C
• gnomAD v2: 5-174152048-G-C
• gnomAD v3: 5-174725045-G-C
• gnomAD v4: 5-174725045-G-C
• MyVariant Identifiers: chr5:g.174152048G>C (hg19) ; chr5:g.174725045G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725045G>C , CM000667.2:g.174725045G>C	GRCh38
NC_000005.9:g.174152048G>C , CM000667.1:g.174152048G>C	GRCh37
NC_000005.8:g.174084654G>C	NCBI36
NG_008124.1:g.5474G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+7G>C MANE Select	ENSP00000239243.5:n.379+7G>C
ENST00000239243.6:c.379+7G>C	ENSP00000239243.5:n.379+7G>C
ENST00000507785.2:c.386G>C	ENSP00000427425.1:p.Cys129Ser
NM_002449.4:c.379+7G>C	NP_002440.2:n.379+7G>C
NM_001363626.1:c.386G>C	NP_001350555.1:p.Cys129Ser
NM_002449.5:c.379+7G>C MANE Select	NP_002440.2:n.379+7G>C
NM_001363626.2:c.386G>C	NP_001350555.1:p.Cys129Ser