Canonical Allele Identifier: CA3749990

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2141952
• ClinVar RCV Id: RCV003058811
• dbSNP Id: rs750038327
• ExAC: 6:33132652 T / G
• gnomAD v2: 6-33132652-T-G
• gnomAD v3: 6-33164875-T-G
• gnomAD v4: 6-33164875-T-G
• MyVariant Identifiers: chr6:g.33132652T>G (hg19) ; chr6:g.33164875T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164875T>G , CM000668.2:g.33164875T>G	GRCh38
NC_000006.11:g.33132652T>G , CM000668.1:g.33132652T>G	GRCh37
NC_000006.10:g.33240630T>G	NCBI36
NG_011589.1:g.32594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.646A>C
ENST00000341947.7:c.4840A>C MANE Select	ENSP00000339915.2:p.Thr1614Pro
ENST00000341947.6:c.4840A>C	ENSP00000339915.2:p.Thr1614Pro
ENST00000361917.5:c.4519A>C	ENSP00000355123.1:p.Thr1507Pro
ENST00000374708.8:c.4582A>C	ENSP00000363840.4:p.Thr1528Pro
ENST00000477772.1:n.630A>C
NM_080679.2:c.4519A>C	NP_542410.2:p.Thr1507Pro
NM_080680.2:c.4840A>C	NP_542411.2:p.Thr1614Pro
NM_080681.2:c.4582A>C	NP_542412.2:p.Thr1528Pro
XM_011514298.1:c.3994A>C	XP_011512600.1:p.Thr1332Pro
XM_011514299.1:c.4126A>C	XP_011512601.1:p.Thr1376Pro
XM_011514300.1:c.3946A>C	XP_011512602.1:p.Thr1316Pro
XM_011514301.1:c.3883A>C	XP_011512603.1:p.Thr1295Pro
XM_011514302.1:c.3727A>C	XP_011512604.1:p.Thr1243Pro
XM_011514299.2:c.4126A>C	XP_011512601.1:p.Thr1376Pro
XM_011514300.2:c.3946A>C	XP_011512602.1:p.Thr1316Pro
XM_011514302.2:c.3727A>C	XP_011512604.1:p.Thr1243Pro
XM_017010250.1:c.4840A>C	XP_016865739.1:p.Thr1614Pro
XM_017010251.2:c.3658A>C	XP_016865740.1:p.Thr1220Pro
NM_080680.3:c.4840A>C MANE Select	NP_542411.2:p.Thr1614Pro
NM_080681.3:c.4582A>C	NP_542412.2:p.Thr1528Pro
NM_080679.3:c.4519A>C	NP_542410.2:p.Thr1507Pro