Canonical Allele Identifier: CA1887741

Gene: LCT

Linked Data

• ClinVar Variation Id: 331168
• ClinVar RCV Id: RCV000349439 ; RCV000392923 ; RCV001511195 ; RCV001528850
• dbSNP Id: rs2322659
• ExAC: 2:136555659 T / C
• gnomAD v2: 2-136555659-T-C
• gnomAD v3: 2-135798089-T-C
• gnomAD v4: 2-135798089-T-C
• MyVariant Identifiers: chr2:g.136555659T>C (hg19) ; chr2:g.135798089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135798089T>C , CM000664.2:g.135798089T>C	GRCh38
NC_000002.11:g.136555659T>C , CM000664.1:g.136555659T>C	GRCh37
NC_000002.10:g.136272129T>C	NCBI36
NG_008104.2:g.62081A>G , LRG_338:g.62081A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4916A>G MANE Select	ENSP00000264162.2:p.Asn1639Ser
ENST00000264162.6:c.4916A>G	ENSP00000264162.2:p.Asn1639Ser
ENST00000452974.1:c.3009A>G	ENSP00000391231.1:p.Gln1003=
NM_002299.2:c.4916A>G , LRG_338t1:c.4916A>G	NP_002290.2:p.Asn1639Ser
NM_002299.3:c.4916A>G	NP_002290.2:p.Asn1639Ser
XM_017004088.2:c.4916A>G	XP_016859577.1:p.Asn1639Ser
NM_002299.4:c.4916A>G MANE Select	NP_002290.2:p.Asn1639Ser