Canonical Allele Identifier: CA137061412

Gene: COL11A2

Linked Data

• dbSNP Id: rs935573544
• gnomAD v2: 6-33132123-A-G
• gnomAD v3: 6-33164346-A-G
• gnomAD v4: 6-33164346-A-G
• MyVariant Identifiers: chr6:g.33132123A>G (hg19) ; chr6:g.33164346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164346A>G , CM000668.2:g.33164346A>G	GRCh38
NC_000006.11:g.33132123A>G , CM000668.1:g.33132123A>G	GRCh37
NC_000006.10:g.33240101A>G	NCBI36
NG_011589.1:g.33123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.797T>C
ENST00000341947.7:c.4991T>C MANE Select	ENSP00000339915.2:p.Leu1664Pro
ENST00000341947.6:c.4991T>C	ENSP00000339915.2:p.Leu1664Pro
ENST00000361917.5:c.4670T>C	ENSP00000355123.1:p.Leu1557Pro
ENST00000374708.8:c.4733T>C	ENSP00000363840.4:p.Leu1578Pro
ENST00000477772.1:n.781T>C
NM_080679.2:c.4670T>C	NP_542410.2:p.Leu1557Pro
NM_080680.2:c.4991T>C	NP_542411.2:p.Leu1664Pro
NM_080681.2:c.4733T>C	NP_542412.2:p.Leu1578Pro
XM_011514298.1:c.4145T>C	XP_011512600.1:p.Leu1382Pro
XM_011514299.1:c.4277T>C	XP_011512601.1:p.Leu1426Pro
XM_011514300.1:c.4097T>C	XP_011512602.1:p.Leu1366Pro
XM_011514301.1:c.4034T>C	XP_011512603.1:p.Leu1345Pro
XM_011514302.1:c.3878T>C	XP_011512604.1:p.Leu1293Pro
XM_011514299.2:c.4277T>C	XP_011512601.1:p.Leu1426Pro
XM_011514300.2:c.4097T>C	XP_011512602.1:p.Leu1366Pro
XM_011514302.2:c.3878T>C	XP_011512604.1:p.Leu1293Pro
XM_017010250.1:c.4991T>C	XP_016865739.1:p.Leu1664Pro
XM_017010251.2:c.3809T>C	XP_016865740.1:p.Leu1270Pro
NM_080680.3:c.4991T>C MANE Select	NP_542411.2:p.Leu1664Pro
NM_080681.3:c.4733T>C	NP_542412.2:p.Leu1578Pro
NM_080679.3:c.4670T>C	NP_542410.2:p.Leu1557Pro