Canonical Allele Identifier: CA3994838

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503197T>C , CM000668.2:g.129503197T>C	GRCh38
NC_000006.11:g.129824342T>C , CM000668.1:g.129824342T>C	GRCh37
NC_000006.10:g.129866035T>C	NCBI36
NG_008678.1:g.625057T>C , LRG_409:g.625057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.529T>C	ENSP00000510626.1:p.Leu177=
ENST00000498257.6:c.529T>C	ENSP00000510533.1:p.Leu177=
ENST00000617695.5:c.8452T>C	ENSP00000481744.2:p.Leu2818=
ENST00000618192.5:c.8728T>C	ENSP00000480802.2:p.Leu2910=
ENST00000688198.1:n.1442T>C
ENST00000688799.1:c.529T>C	ENSP00000508458.1:p.Leu177=
ENST00000690858.1:n.1458T>C
ENST00000693461.1:n.801T>C
ENST00000421865.3:c.8464T>C MANE Select	ENSP00000400365.2:p.Leu2822=
ENST00000421865.2:c.8464T>C	ENSP00000400365.2:p.Leu2822=
ENST00000617695.4:c.8452T>C	ENSP00000481744.1:p.Leu2818=
ENST00000618192.4:c.8461T>C	ENSP00000480802.1:p.Leu2821=
NM_000426.3:c.8464T>C , LRG_409t1:c.8464T>C	NP_000417.2:p.Leu2822=
NM_001079823.1:c.8452T>C	NP_001073291.1:p.Leu2818=
XM_005266981.2:c.8728T>C	XP_005267038.1:p.Leu2910=
XM_005266982.2:c.8716T>C	XP_005267039.1:p.Leu2906=
XM_011535820.1:c.8722T>C	XP_011534122.1:p.Leu2908=
XR_942984.1:n.1461-406A>G
XR_942985.1:n.1325-406A>G
XM_005266981.3:c.8728T>C	XP_005267038.1:p.Leu2910=
XM_005266982.3:c.8716T>C	XP_005267039.1:p.Leu2906=
XM_011535820.2:c.8722T>C	XP_011534122.1:p.Leu2908=
XM_017010851.2:c.8734T>C	XP_016866340.1:p.Leu2912=
XM_017010852.1:c.6859T>C	XP_016866341.1:p.Leu2287=
XR_001743859.1:n.3901-406A>G
XR_001743860.1:n.1180-406A>G
XR_001743861.1:n.1347-406A>G
XR_001743863.1:n.883-406A>G
XR_002956395.1:n.9132-406A>G
XR_002956396.1:n.3127-406A>G
NM_000426.4:c.8464T>C MANE Select	NP_000417.3:p.Leu2822=
NM_001079823.2:c.8452T>C	NP_001073291.2:p.Leu2818=