Canonical Allele Identifier: CA362229479

Gene: MSX2

Linked Data

• gnomAD v4: 5-174724937-G-C
• MyVariant Identifiers: chr5:g.174151940G>C (hg19) ; chr5:g.174724937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724937G>C , CM000667.2:g.174724937G>C	GRCh38
NC_000005.9:g.174151940G>C , CM000667.1:g.174151940G>C	GRCh37
NC_000005.8:g.174084546G>C	NCBI36
NG_008124.1:g.5366G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.278G>C MANE Select	ENSP00000239243.5:p.Gly93Ala
ENST00000239243.6:c.278G>C	ENSP00000239243.5:p.Gly93Ala
ENST00000507785.2:c.278G>C	ENSP00000427425.1:p.Gly93Ala
NM_002449.4:c.278G>C	NP_002440.2:p.Gly93Ala
NM_001363626.1:c.278G>C	NP_001350555.1:p.Gly93Ala
NM_002449.5:c.278G>C MANE Select	NP_002440.2:p.Gly93Ala
NM_001363626.2:c.278G>C	NP_001350555.1:p.Gly93Ala