Canonical Allele Identifier: CA915283945

Gene: COL11A2

Linked Data

• dbSNP Id: rs1562305570
• gnomAD v2: 6-33133007-A-C
• gnomAD v3: 6-33165230-A-C
• gnomAD v4: 6-33165230-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165230A>C , CM000668.2:g.33165230A>C	GRCh38
NC_000006.11:g.33133007A>C , CM000668.1:g.33133007A>C	GRCh37
NC_000006.10:g.33240985A>C	NCBI36
NG_011589.1:g.32239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.557-266T>G
ENST00000341947.7:c.4751-266T>G MANE Select	ENSP00000339915.2:n.4751-266T>G
ENST00000341947.6:c.4751-266T>G	ENSP00000339915.2:n.4751-266T>G
ENST00000361917.5:c.4430-266T>G	ENSP00000355123.1:n.4430-266T>G
ENST00000374708.8:c.4493-266T>G	ENSP00000363840.4:n.4493-266T>G
ENST00000477772.1:n.541-266T>G
NM_080679.2:c.4430-266T>G	NP_542410.2:n.4430-266T>G
NM_080680.2:c.4751-266T>G	NP_542411.2:n.4751-266T>G
NM_080681.2:c.4493-266T>G	NP_542412.2:n.4493-266T>G
XM_011514298.1:c.3905-266T>G	XP_011512600.1:n.3905-266T>G
XM_011514299.1:c.4037-266T>G	XP_011512601.1:n.4037-266T>G
XM_011514300.1:c.3857-266T>G	XP_011512602.1:n.3857-266T>G
XM_011514301.1:c.3794-266T>G	XP_011512603.1:n.3794-266T>G
XM_011514302.1:c.3638-266T>G	XP_011512604.1:n.3638-266T>G
XM_011514299.2:c.4037-266T>G	XP_011512601.1:n.4037-266T>G
XM_011514300.2:c.3857-266T>G	XP_011512602.1:n.3857-266T>G
XM_011514302.2:c.3638-266T>G	XP_011512604.1:n.3638-266T>G
XM_017010250.1:c.4751-266T>G	XP_016865739.1:n.4751-266T>G
XM_017010251.2:c.3569-266T>G	XP_016865740.1:n.3569-266T>G
NM_080680.3:c.4751-266T>G MANE Select	NP_542411.2:n.4751-266T>G
NM_080681.3:c.4493-266T>G	NP_542412.2:n.4493-266T>G
NM_080679.3:c.4430-266T>G	NP_542410.2:n.4430-266T>G