Canonical Allele Identifier: CA449876390

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33171106-T-C
• MyVariant Identifiers: chr6:g.33138883T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171106T>C , CM000668.2:g.33171106T>C	GRCh38
NC_000006.11:g.33138883T>C , CM000668.1:g.33138883T>C	GRCh37
NC_000006.10:g.33246861T>C	NCBI36
NG_011589.1:g.26363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3366+8A>G MANE Select	ENSP00000339915.2:n.3366+8A>G
ENST00000341947.6:c.3366+8A>G	ENSP00000339915.2:n.3366+8A>G
ENST00000361917.5:c.3045+8A>G	ENSP00000355123.1:n.3045+8A>G
ENST00000374708.8:c.3108+8A>G	ENSP00000363840.4:n.3108+8A>G
ENST00000477772.1:n.273-5290A>G
NM_080679.2:c.3045+8A>G	NP_542410.2:n.3045+8A>G
NM_080680.2:c.3366+8A>G	NP_542411.2:n.3366+8A>G
NM_080681.2:c.3108+8A>G	NP_542412.2:n.3108+8A>G
XM_011514298.1:c.2520+8A>G	XP_011512600.1:n.2520+8A>G
XM_011514299.1:c.2652+8A>G	XP_011512601.1:n.2652+8A>G
XM_011514300.1:c.2472+8A>G	XP_011512602.1:n.2472+8A>G
XM_011514301.1:c.2409+8A>G	XP_011512603.1:n.2409+8A>G
XM_011514302.1:c.2253+8A>G	XP_011512604.1:n.2253+8A>G
XM_011514299.2:c.2652+8A>G	XP_011512601.1:n.2652+8A>G
XM_011514300.2:c.2472+8A>G	XP_011512602.1:n.2472+8A>G
XM_011514302.2:c.2253+8A>G	XP_011512604.1:n.2253+8A>G
XM_017010250.1:c.3366+8A>G	XP_016865739.1:n.3366+8A>G
XM_017010251.2:c.2184+8A>G	XP_016865740.1:n.2184+8A>G
NM_080680.3:c.3366+8A>G MANE Select	NP_542411.2:n.3366+8A>G
NM_080681.3:c.3108+8A>G	NP_542412.2:n.3108+8A>G
NM_080679.3:c.3045+8A>G	NP_542410.2:n.3045+8A>G