Canonical Allele Identifier: CA202481

Gene: COL9A2

Linked Data

• ClinVar Variation Id: 196621
• ClinVar RCV Id: RCV000177460 ; RCV000991649
• dbSNP Id: rs3831927
• ExAC: 1:40768483 TGGAGGGAG / T
• gnomAD v2: 1-40768483-TGGAGGGAG-T
• gnomAD v3: 1-40302811-TGGAGGGAG-T
• gnomAD v4: 1-40302811-TGGAGGGAG-T
• MyVariant Identifiers: chr1:g.40768484_40768491del (hg19) ; chr1:g.40302812_40302819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40302828_40302835del , CM000663.2:g.40302828_40302835del	GRCh38
NC_000001.10:g.40768500_40768507del , CM000663.1:g.40768500_40768507del	GRCh37
NC_000001.9:g.40541087_40541094del	NCBI36
NG_008031.1:g.19449_19456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.1604-10_1604-3del MANE Select	ENSP00000361834.3:n.1604-10_1604-3del
ENST00000372748.7:c.1604-10_1604-3del	ENSP00000361834.3:n.1604-10_1604-3del
ENST00000427563.1:c.360-10_360-3del	ENSP00000407377.1:n.360-10_360-3del
ENST00000466267.1:n.569-10_569-3del
ENST00000482722.5:n.1907-10_1907-3del
NM_001852.3:c.1604-10_1604-3del	NP_001843.1:n.1604-10_1604-3del
XM_006710365.2:c.1604-10_1604-3del	XP_006710428.1:n.1604-10_1604-3del
XM_011540714.1:c.1616-10_1616-3del	XP_011539016.1:n.1616-10_1616-3del
XM_011540715.1:c.1334-10_1334-3del	XP_011539017.1:n.1334-10_1334-3del
XM_011540716.1:c.1334-10_1334-3del	XP_011539018.1:n.1334-10_1334-3del
XM_011540717.1:c.1061-10_1061-3del	XP_011539019.1:n.1061-10_1061-3del
XM_006710365.3:c.1604-10_1604-3del	XP_006710428.1:n.1604-10_1604-3del
XM_011540715.2:c.1334-10_1334-3del	XP_011539017.1:n.1334-10_1334-3del
XM_011540716.2:c.1334-10_1334-3del	XP_011539018.1:n.1334-10_1334-3del
XM_011540717.2:c.1061-10_1061-3del	XP_011539019.1:n.1061-10_1061-3del
XM_017000332.1:c.1616-10_1616-3del	XP_016855821.1:n.1616-10_1616-3del
XM_017000333.1:c.1322-10_1322-3del	XP_016855822.1:n.1322-10_1322-3del
NM_001852.4:c.1604-10_1604-3del MANE Select	NP_001843.1:n.1604-10_1604-3del