Canonical Allele Identifier: CA935910949

Gene: CCDC179 GAS2

Linked Data

• gnomAD v3: 11-22858853-G-A
• gnomAD v4: 11-22858853-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22858853G>A , CM000673.2:g.22858853G>A	GRCh38
NC_000011.9:g.22880399G>A , CM000673.1:g.22880399G>A	GRCh37
NC_000011.8:g.22836975G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532798.3:c.90+599C>T (CCDC179) MANE Select	ENSP00000457511.1:n.90+599C>T
ENST00000532798.2:c.90+599C>T (CCDC179)	ENSP00000457511.1:n.90+599C>T
NM_001195637.1:c.90+599C>T (CCDC179)	NP_001182566.1:n.90+599C>T
XM_011519802.1:c.90+599C>T (CCDC179)	XP_011518104.1:n.90+599C>T
XM_011519803.1:c.90+599C>T (CCDC179)	XP_011518105.1:n.90+599C>T
XM_011519804.1:c.90+599C>T (CCDC179)	XP_011518106.1:n.90+599C>T
XR_931120.1:n.430+20489G>A
XR_931122.1:n.431-5060G>A
XR_931123.1:n.361+20489G>A
XM_011519802.2:c.90+599C>T (CCDC179)	XP_011518104.1:n.90+599C>T
XM_011519803.2:c.90+599C>T (CCDC179)	XP_011518105.1:n.90+599C>T
XR_001747829.1:n.1323+20489G>A (GAS2)
NM_001195637.2:c.90+599C>T (CCDC179) MANE Select	NP_001182566.1:n.90+599C>T