Canonical Allele Identifier: CA363616240

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132156T>C (hg19) ; chr6:g.33164379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164379T>C , CM000668.2:g.33164379T>C	GRCh38
NC_000006.11:g.33132156T>C , CM000668.1:g.33132156T>C	GRCh37
NC_000006.10:g.33240134T>C	NCBI36
NG_011589.1:g.33090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.764A>G
ENST00000341947.7:c.4958A>G MANE Select	ENSP00000339915.2:p.Tyr1653Cys
ENST00000341947.6:c.4958A>G	ENSP00000339915.2:p.Tyr1653Cys
ENST00000361917.5:c.4637A>G	ENSP00000355123.1:p.Tyr1546Cys
ENST00000374708.8:c.4700A>G	ENSP00000363840.4:p.Tyr1567Cys
ENST00000477772.1:n.748A>G
NM_080679.2:c.4637A>G	NP_542410.2:p.Tyr1546Cys
NM_080680.2:c.4958A>G	NP_542411.2:p.Tyr1653Cys
NM_080681.2:c.4700A>G	NP_542412.2:p.Tyr1567Cys
XM_011514298.1:c.4112A>G	XP_011512600.1:p.Tyr1371Cys
XM_011514299.1:c.4244A>G	XP_011512601.1:p.Tyr1415Cys
XM_011514300.1:c.4064A>G	XP_011512602.1:p.Tyr1355Cys
XM_011514301.1:c.4001A>G	XP_011512603.1:p.Tyr1334Cys
XM_011514302.1:c.3845A>G	XP_011512604.1:p.Tyr1282Cys
XM_011514299.2:c.4244A>G	XP_011512601.1:p.Tyr1415Cys
XM_011514300.2:c.4064A>G	XP_011512602.1:p.Tyr1355Cys
XM_011514302.2:c.3845A>G	XP_011512604.1:p.Tyr1282Cys
XM_017010250.1:c.4958A>G	XP_016865739.1:p.Tyr1653Cys
XM_017010251.2:c.3776A>G	XP_016865740.1:p.Tyr1259Cys
NM_080680.3:c.4958A>G MANE Select	NP_542411.2:p.Tyr1653Cys
NM_080681.3:c.4700A>G	NP_542412.2:p.Tyr1567Cys
NM_080679.3:c.4637A>G	NP_542410.2:p.Tyr1546Cys