Canonical Allele Identifier: CA363644224

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142324G>C (hg19) ; chr6:g.33174547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174547G>C , CM000668.2:g.33174547G>C	GRCh38
NC_000006.11:g.33142324G>C , CM000668.1:g.33142324G>C	GRCh37
NC_000006.10:g.33250302G>C	NCBI36
NG_011589.1:g.22922C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.983C>G
ENST00000341947.7:c.2410C>G MANE Select	ENSP00000339915.2:p.Pro804Ala
ENST00000341947.6:c.2410C>G	ENSP00000339915.2:p.Pro804Ala
ENST00000361917.5:c.2089C>G	ENSP00000355123.1:p.Pro697Ala
ENST00000374708.8:c.2152C>G	ENSP00000363840.4:p.Pro718Ala
ENST00000477772.1:n.272+2462C>G
NM_080679.2:c.2089C>G	NP_542410.2:p.Pro697Ala
NM_080680.2:c.2410C>G	NP_542411.2:p.Pro804Ala
NM_080681.2:c.2152C>G	NP_542412.2:p.Pro718Ala
XM_011514298.1:c.1564C>G	XP_011512600.1:p.Pro522Ala
XM_011514299.1:c.1696C>G	XP_011512601.1:p.Pro566Ala
XM_011514300.1:c.1516C>G	XP_011512602.1:p.Pro506Ala
XM_011514301.1:c.1453C>G	XP_011512603.1:p.Pro485Ala
XM_011514302.1:c.1297C>G	XP_011512604.1:p.Pro433Ala
XM_011514299.2:c.1696C>G	XP_011512601.1:p.Pro566Ala
XM_011514300.2:c.1516C>G	XP_011512602.1:p.Pro506Ala
XM_011514302.2:c.1297C>G	XP_011512604.1:p.Pro433Ala
XM_017010250.1:c.2410C>G	XP_016865739.1:p.Pro804Ala
XM_017010251.2:c.1228C>G	XP_016865740.1:p.Pro410Ala
NM_080680.3:c.2410C>G MANE Select	NP_542411.2:p.Pro804Ala
NM_080681.3:c.2152C>G	NP_542412.2:p.Pro718Ala
NM_080679.3:c.2089C>G	NP_542410.2:p.Pro697Ala