Canonical Allele Identifier: CA3750764

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 356398
• ClinVar RCV Id: RCV000290480 ; RCV000344614 ; RCV000379273 ; RCV000400234 ; RCV001538789
• dbSNP Id: rs555936455
• ExAC: 6:33141177 C / G
• gnomAD v2: 6-33141177-C-G
• gnomAD v3: 6-33173400-C-G
• gnomAD v4: 6-33173400-C-G
• MyVariant Identifiers: chr6:g.33141177C>G (hg19) ; chr6:g.33173400C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33173400C>G , CM000668.2:g.33173400C>G	GRCh38
NC_000006.11:g.33141177C>G , CM000668.1:g.33141177C>G	GRCh37
NC_000006.10:g.33249155C>G	NCBI36
NG_011589.1:g.24069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.1257G>C
ENST00000341947.7:c.2684G>C MANE Select	ENSP00000339915.2:p.Gly895Ala
ENST00000341947.6:c.2684G>C	ENSP00000339915.2:p.Gly895Ala
ENST00000361917.5:c.2363G>C	ENSP00000355123.1:p.Gly788Ala
ENST00000374708.8:c.2426G>C	ENSP00000363840.4:p.Gly809Ala
ENST00000477772.1:n.272+3609G>C
NM_080679.2:c.2363G>C	NP_542410.2:p.Gly788Ala
NM_080680.2:c.2684G>C	NP_542411.2:p.Gly895Ala
NM_080681.2:c.2426G>C	NP_542412.2:p.Gly809Ala
XM_011514298.1:c.1838G>C	XP_011512600.1:p.Gly613Ala
XM_011514299.1:c.1970G>C	XP_011512601.1:p.Gly657Ala
XM_011514300.1:c.1790G>C	XP_011512602.1:p.Gly597Ala
XM_011514301.1:c.1727G>C	XP_011512603.1:p.Gly576Ala
XM_011514302.1:c.1571G>C	XP_011512604.1:p.Gly524Ala
XM_011514299.2:c.1970G>C	XP_011512601.1:p.Gly657Ala
XM_011514300.2:c.1790G>C	XP_011512602.1:p.Gly597Ala
XM_011514302.2:c.1571G>C	XP_011512604.1:p.Gly524Ala
XM_017010250.1:c.2684G>C	XP_016865739.1:p.Gly895Ala
XM_017010251.2:c.1502G>C	XP_016865740.1:p.Gly501Ala
NM_080680.3:c.2684G>C MANE Select	NP_542411.2:p.Gly895Ala
NM_080681.3:c.2426G>C	NP_542412.2:p.Gly809Ala
NM_080679.3:c.2363G>C	NP_542410.2:p.Gly788Ala