Canonical Allele Identifier: CA824029585

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2029009
• ClinVar RCV Id: RCV002876426
• dbSNP Id: rs1375341513
• MyVariant Identifiers: chr6:g.33132258G>A (hg19) ; chr6:g.33164481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164481G>A , CM000668.2:g.33164481G>A	GRCh38
NC_000006.11:g.33132258G>A , CM000668.1:g.33132258G>A	GRCh37
NC_000006.10:g.33240236G>A	NCBI36
NG_011589.1:g.32988C>T

Transcript Alleles

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