Canonical Allele Identifier: CA12408251

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1271374
• ClinVar RCV Id: RCV001681423
• dbSNP Id: rs28711386
• gnomAD v2: 6-33132365-T-C
• gnomAD v3: 6-33164588-T-C
• gnomAD v4: 6-33164588-T-C
• MyVariant Identifiers: chr6:g.33132365T>C (hg19) ; chr6:g.33164588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164588T>C , CM000668.2:g.33164588T>C	GRCh38
NC_000006.11:g.33132365T>C , CM000668.1:g.33132365T>C	GRCh37
NC_000006.10:g.33240343T>C	NCBI36
NG_011589.1:g.32881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-115A>G
ENST00000341947.7:c.4864-115A>G MANE Select	ENSP00000339915.2:n.4864-115A>G
ENST00000341947.6:c.4864-115A>G	ENSP00000339915.2:n.4864-115A>G
ENST00000361917.5:c.4543-115A>G	ENSP00000355123.1:n.4543-115A>G
ENST00000374708.8:c.4606-115A>G	ENSP00000363840.4:n.4606-115A>G
ENST00000477772.1:n.654-115A>G
NM_080679.2:c.4543-115A>G	NP_542410.2:n.4543-115A>G
NM_080680.2:c.4864-115A>G	NP_542411.2:n.4864-115A>G
NM_080681.2:c.4606-115A>G	NP_542412.2:n.4606-115A>G
XM_011514298.1:c.4018-115A>G	XP_011512600.1:n.4018-115A>G
XM_011514299.1:c.4150-115A>G	XP_011512601.1:n.4150-115A>G
XM_011514300.1:c.3970-115A>G	XP_011512602.1:n.3970-115A>G
XM_011514301.1:c.3907-115A>G	XP_011512603.1:n.3907-115A>G
XM_011514302.1:c.3751-115A>G	XP_011512604.1:n.3751-115A>G
XM_011514299.2:c.4150-115A>G	XP_011512601.1:n.4150-115A>G
XM_011514300.2:c.3970-115A>G	XP_011512602.1:n.3970-115A>G
XM_011514302.2:c.3751-115A>G	XP_011512604.1:n.3751-115A>G
XM_017010250.1:c.4864-115A>G	XP_016865739.1:n.4864-115A>G
XM_017010251.2:c.3682-115A>G	XP_016865740.1:n.3682-115A>G
NM_080680.3:c.4864-115A>G MANE Select	NP_542411.2:n.4864-115A>G
NM_080681.3:c.4606-115A>G	NP_542412.2:n.4606-115A>G
NM_080679.3:c.4543-115A>G	NP_542410.2:n.4543-115A>G