Canonical Allele Identifier: CA3565083
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs772580584
ExAC: 5:174151657 G / T
gnomAD v2: 5-174151657-G-T
gnomAD v4: 5-174724654-G-T
MyVariant Identifiers: chr5:g.174151657G>T (hg19) chr5:g.174724654G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724654G>T , CM000667.2:g.174724654G>T GRCh38
NC_000005.9:g.174151657G>T , CM000667.1:g.174151657G>T GRCh37
NC_000005.8:g.174084263G>T NCBI36
NG_008124.1:g.5083G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-6G>T MANE Select ENSP00000239243.5:n.-6G>T
ENST00000239243.6:c.-6G>T ENSP00000239243.5:n.-6G>T
ENST00000507785.2:c.-6G>T ENSP00000427425.1:n.-6G>T
NM_002449.4:c.-6G>T NP_002440.2:n.-6G>T
NM_001363626.1:c.-6G>T NP_001350555.1:n.-6G>T
NM_002449.5:c.-6G>T MANE Select NP_002440.2:n.-6G>T
NM_001363626.2:c.-6G>T NP_001350555.1:n.-6G>T
Search 100 bp 5'
Search 100 bp 3'