Canonical Allele Identifier: CA219113457

Gene: CCDC179 GAS2

Linked Data

• dbSNP Id: rs1045124101
• gnomAD v3: 11-22858938-A-G
• gnomAD v4: 11-22858938-A-G
• MyVariant Identifiers: chr11:g.22880484A>G (hg19) ; chr11:g.22858938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22858938A>G , CM000673.2:g.22858938A>G	GRCh38
NC_000011.9:g.22880484A>G , CM000673.1:g.22880484A>G	GRCh37
NC_000011.8:g.22837060A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532798.3:c.90+514T>C (CCDC179) MANE Select	ENSP00000457511.1:n.90+514T>C
ENST00000532798.2:c.90+514T>C (CCDC179)	ENSP00000457511.1:n.90+514T>C
NM_001195637.1:c.90+514T>C (CCDC179)	NP_001182566.1:n.90+514T>C
XM_011519802.1:c.90+514T>C (CCDC179)	XP_011518104.1:n.90+514T>C
XM_011519803.1:c.90+514T>C (CCDC179)	XP_011518105.1:n.90+514T>C
XM_011519804.1:c.90+514T>C (CCDC179)	XP_011518106.1:n.90+514T>C
XR_931120.1:n.430+20574A>G
XR_931122.1:n.431-4975A>G
XR_931123.1:n.361+20574A>G
XM_011519802.2:c.90+514T>C (CCDC179)	XP_011518104.1:n.90+514T>C
XM_011519803.2:c.90+514T>C (CCDC179)	XP_011518105.1:n.90+514T>C
XR_001747829.1:n.1323+20574A>G (GAS2)
NM_001195637.2:c.90+514T>C (CCDC179) MANE Select	NP_001182566.1:n.90+514T>C