Canonical Allele Identifier: CA363634724

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138938G>C (hg19) ; chr6:g.33171161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171161G>C , CM000668.2:g.33171161G>C	GRCh38
NC_000006.11:g.33138938G>C , CM000668.1:g.33138938G>C	GRCh37
NC_000006.10:g.33246916G>C	NCBI36
NG_011589.1:g.26308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3319C>G MANE Select	ENSP00000339915.2:p.Pro1107Ala
ENST00000341947.6:c.3319C>G	ENSP00000339915.2:p.Pro1107Ala
ENST00000361917.5:c.2998C>G	ENSP00000355123.1:p.Pro1000Ala
ENST00000374708.8:c.3061C>G	ENSP00000363840.4:p.Pro1021Ala
ENST00000477772.1:n.273-5345C>G
NM_080679.2:c.2998C>G	NP_542410.2:p.Pro1000Ala
NM_080680.2:c.3319C>G	NP_542411.2:p.Pro1107Ala
NM_080681.2:c.3061C>G	NP_542412.2:p.Pro1021Ala
XM_011514298.1:c.2473C>G	XP_011512600.1:p.Pro825Ala
XM_011514299.1:c.2605C>G	XP_011512601.1:p.Pro869Ala
XM_011514300.1:c.2425C>G	XP_011512602.1:p.Pro809Ala
XM_011514301.1:c.2362C>G	XP_011512603.1:p.Pro788Ala
XM_011514302.1:c.2206C>G	XP_011512604.1:p.Pro736Ala
XM_011514299.2:c.2605C>G	XP_011512601.1:p.Pro869Ala
XM_011514300.2:c.2425C>G	XP_011512602.1:p.Pro809Ala
XM_011514302.2:c.2206C>G	XP_011512604.1:p.Pro736Ala
XM_017010250.1:c.3319C>G	XP_016865739.1:p.Pro1107Ala
XM_017010251.2:c.2137C>G	XP_016865740.1:p.Pro713Ala
NM_080680.3:c.3319C>G MANE Select	NP_542411.2:p.Pro1107Ala
NM_080681.3:c.3061C>G	NP_542412.2:p.Pro1021Ala
NM_080679.3:c.2998C>G	NP_542410.2:p.Pro1000Ala