Canonical Allele Identifier: CA411376538
Gene: CACNG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.36960684T>G (hg19) chr22:g.36564637T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564637T>G , CM000684.2:g.36564637T>G GRCh38
NC_000022.10:g.36960684T>G , CM000684.1:g.36960684T>G GRCh37
NC_000022.9:g.35290630T>G NCBI36
NG_031861.1:g.143007A>C
NG_031861.2:g.143222A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.686A>C MANE Select ENSP00000300105.6:p.Tyr229Ser
ENST00000300105.6:c.686A>C ENSP00000300105.6:p.Tyr229Ser
NM_006078.3:c.686A>C NP_006069.1:p.Tyr229Ser
NM_006078.4:c.686A>C NP_006069.1:p.Tyr229Ser
XM_017028531.2:c.428A>C XP_016884020.1:p.Tyr143Ser
NM_001379051.1:c.617A>C NP_001365980.1:p.Tyr206Ser
NM_006078.5:c.686A>C MANE Select NP_006069.1:p.Tyr229Ser
NR_166440.1:n.2052A>C
Search 100 bp 5'
Search 100 bp 3'