Canonical Allele Identifier: CA365634949

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826457T>C (hg19) ; chr6:g.129505312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505312T>C , CM000668.2:g.129505312T>C	GRCh38
NC_000006.11:g.129826457T>C , CM000668.1:g.129826457T>C	GRCh37
NC_000006.10:g.129868150T>C	NCBI36
NG_008678.1:g.627172T>C , LRG_409:g.627172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.725T>C	ENSP00000510626.1:p.Val242Ala
ENST00000498257.6:c.725T>C	ENSP00000510533.1:p.Val242Ala
ENST00000617695.5:c.8648T>C	ENSP00000481744.2:p.Val2883Ala
ENST00000618192.5:c.8924T>C	ENSP00000480802.2:p.Val2975Ala
ENST00000688198.1:n.1638T>C
ENST00000688799.1:c.725T>C	ENSP00000508458.1:p.Val242Ala
ENST00000690858.1:n.1654T>C
ENST00000693461.1:n.997T>C
ENST00000421865.3:c.8660T>C MANE Select	ENSP00000400365.2:p.Val2887Ala
ENST00000421865.2:c.8660T>C	ENSP00000400365.2:p.Val2887Ala
ENST00000617695.4:c.8648T>C	ENSP00000481744.1:p.Val2883Ala
ENST00000618192.4:c.8657T>C	ENSP00000480802.1:p.Val2886Ala
NM_000426.3:c.8660T>C , LRG_409t1:c.8660T>C	NP_000417.2:p.Val2887Ala
NM_001079823.1:c.8648T>C	NP_001073291.1:p.Val2883Ala
XM_005266981.2:c.8924T>C	XP_005267038.1:p.Val2975Ala
XM_005266982.2:c.8912T>C	XP_005267039.1:p.Val2971Ala
XM_011535820.1:c.8918T>C	XP_011534122.1:p.Val2973Ala
XR_942984.1:n.1461-2521A>G
XR_942985.1:n.1325-2521A>G
XM_005266981.3:c.8924T>C	XP_005267038.1:p.Val2975Ala
XM_005266982.3:c.8912T>C	XP_005267039.1:p.Val2971Ala
XM_011535820.2:c.8918T>C	XP_011534122.1:p.Val2973Ala
XM_017010851.2:c.8930T>C	XP_016866340.1:p.Val2977Ala
XM_017010852.1:c.7055T>C	XP_016866341.1:p.Val2352Ala
XR_001743859.1:n.3901-2521A>G
XR_001743860.1:n.1180-2521A>G
XR_001743861.1:n.1347-2521A>G
XR_001743863.1:n.883-2521A>G
XR_002956395.1:n.9132-2521A>G
XR_002956396.1:n.3127-2521A>G
NM_000426.4:c.8660T>C MANE Select	NP_000417.3:p.Val2887Ala
NM_001079823.2:c.8648T>C	NP_001073291.2:p.Val2883Ala