Canonical Allele Identifier: CA3749974

Gene: COL11A2

Linked Data

• dbSNP Id: rs192547628
• ExAC: 6:33132280 G / C
• gnomAD v2: 6-33132280-G-C
• gnomAD v3: 6-33164503-G-C
• gnomAD v4: 6-33164503-G-C
• MyVariant Identifiers: chr6:g.33132280G>C (hg19) ; chr6:g.33164503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164503G>C , CM000668.2:g.33164503G>C	GRCh38
NC_000006.11:g.33132280G>C , CM000668.1:g.33132280G>C	GRCh37
NC_000006.10:g.33240258G>C	NCBI36
NG_011589.1:g.32966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-30C>G
ENST00000341947.7:c.4864-30C>G MANE Select	ENSP00000339915.2:n.4864-30C>G
ENST00000341947.6:c.4864-30C>G	ENSP00000339915.2:n.4864-30C>G
ENST00000361917.5:c.4543-30C>G	ENSP00000355123.1:n.4543-30C>G
ENST00000374708.8:c.4606-30C>G	ENSP00000363840.4:n.4606-30C>G
ENST00000477772.1:n.654-30C>G
NM_080679.2:c.4543-30C>G	NP_542410.2:n.4543-30C>G
NM_080680.2:c.4864-30C>G	NP_542411.2:n.4864-30C>G
NM_080681.2:c.4606-30C>G	NP_542412.2:n.4606-30C>G
XM_011514298.1:c.4018-30C>G	XP_011512600.1:n.4018-30C>G
XM_011514299.1:c.4150-30C>G	XP_011512601.1:n.4150-30C>G
XM_011514300.1:c.3970-30C>G	XP_011512602.1:n.3970-30C>G
XM_011514301.1:c.3907-30C>G	XP_011512603.1:n.3907-30C>G
XM_011514302.1:c.3751-30C>G	XP_011512604.1:n.3751-30C>G
XM_011514299.2:c.4150-30C>G	XP_011512601.1:n.4150-30C>G
XM_011514300.2:c.3970-30C>G	XP_011512602.1:n.3970-30C>G
XM_011514302.2:c.3751-30C>G	XP_011512604.1:n.3751-30C>G
XM_017010250.1:c.4864-30C>G	XP_016865739.1:n.4864-30C>G
XM_017010251.2:c.3682-30C>G	XP_016865740.1:n.3682-30C>G
NM_080680.3:c.4864-30C>G MANE Select	NP_542411.2:n.4864-30C>G
NM_080681.3:c.4606-30C>G	NP_542412.2:n.4606-30C>G
NM_080679.3:c.4543-30C>G	NP_542410.2:n.4543-30C>G